mitoNET - Deutsches Netzwerk für mitochondriale Erkrankungen

Was sind mitochondriale Erkrankungen?

Mitochondriale Erkrankungen sind eine heterogene Gruppe von Krankheiten (Mitochondriopathien), die durch Fehlfunktionen der Mitochondrien charakterisiert sind. Im engeren Sinne handelt es sich dabei um alle strukturellen und funktionellen Störungen der in den Mitochondrien lokalisierten Atmungskette (oxidative Phosphorylierung). Diese und andere Stoffwechselwege dienen der Energieversorgung der Zelle.

Prinzipiell kann bei einer mitochondrialen Erkrankung jedes Organ in jedem Alter und mit jedem Schweregrad betroffen sein. Somit gibt es eine Vielzahl an verschiedenen Symptomen und Symptom-Konstellationen. Gewebe mit hohem Energiebedarf sind bevorzugt betroffen: Gehirn, Sinnesorgane, äußere Augenmuskeln, Skelettmuskeln, Herz, Leber, Niere und endokrine Organe (Hormonsystem).

Zu den klassischen mitochondrialen Erkrankungen, die auf Mutationen der mitochondrialen DNA (mtDNA) selbst zurückzuführen sind, zählen die Chronisch Progressive Externe Ophthalmoparese (CPEO), die Lebersche Hereditäre Optikus-Neuropathie (LHON) sowie die Mitochondriale Enzephalomyopathie mit Laktat-Azidose und schlaganfallähnlichen Ereignissen (MELAS).

Trotz diagnostischer Fortschritte und der Aufklärung molekularer Mechanismen durch bisherige Forschungsergebnisse erschwert die Vielfalt der Symptome die Diagnose. Da es für mitochondriale Erkrankungen bislang keine ursächliche Behandlung gibt, fehlen häufig wirksame Therapieansätze.

Gemeinsame Forschung im mitoNET Verbund

Das mitoNET als klinisches Expert:innen-Netzwerk besteht bereits weit über ein Jahrzehnt und umfasst eine Vielzahl an neurologischen Kliniken und Kinderkliniken. Das Bundesministerium für Bildung und Forschung (BMBF) hat das mitoNET im Zeitraum 2009 – 2015 sowie erneut von 2019 bis 2023 gefördert. Auch nach Abschluss der Förderung wird die Arbeit im Netzwerk fortgesetzt.

Die bisherige Zusammenarbeit hat es ermöglicht, ein Patientenregister mit über 2.800 Patient:innen sowie Biobanken mit bereits über 8.000 Proben aufzubauen. Zudem konnten bereits mehr als sechzig neue Gene identifiziert werden. Diese und weitere Errungenschaften bilden die Basis für aktuelle wissenschaftliche Arbeiten.

Der hohe Forschungsbedarf zu den ursächlichen Gendefekten der Mitochondriopathien wird im Rahmen miteinander vernetzter mitoNET-Projekte adressiert. Dabei liegt der Fokus vor allem auf der Entwicklung verbesserter und schnellerer Diagnoseverfahren für mitochondriale Erkrankungen und auf neuartigen Behandlungsansätzen. Neue Erkenntnisse kommen somit in erster Linie den Betroffenen zu Gute.

Die bestehenden Biobanken und das große Patientenregister wurden während der Förderphase für eine bessere internationale Zusammenarbeit mit anderen Datenbanken harmonisiert und verknüpft werden. Das mitoNET ist hierzu im Rahmen des europäischen E-RARE 3 Projekts GENOMIT tätig.

Expertinnen und Experten des mitoNET-Verbunds beteiligen sich aktiv am Europäischen Referenznetzwerk für seltene neurologische Erkrankungen (ERN-RND)

Projekte

mitoREGISTRY – Horizontales klinisches Netzwerk und Register: Prof. T. Klopstock und Dr. B. Büchner, LMU Klinikum München sowie Prof. J. Gagneur, Technische Universität München (TUM) – Institut für Informatik.
mitoGENE – Molekulare Diagnostik mittels Genom- und RNA-Sequenzierung: Dr. H. Prokisch, Klinikum rechts der Isar – Technischen Universität München (TUM) – Institut für Humangenetik und Prof. P. Freisinger, Kreiskliniken Reutlingen.
mitoVALID – Entwicklung einer Validierungsplattform für Varianten unklarer Signifikanz durch funktionelle Komplementation: Dr. L. Kremer und Dr. H. Prokisch, Klinikum rechts der Isar der Technischen Universität München (TUM) – Institut für Humangenetik.
mitoMETABO – Effizientere Diagnose und Behandlung von Patienten mit Erkrankungen der Mitochondrien durch die Entwicklung molekularer Signaturen: Dr. H. Prokisch, Klinikum rechts der Isar der Technischen Universität München (TUM) – Institut für Humangenetik und Dr. G. Kastenmüller, Helmholtz Zentrum – Institut für Bioinformatik und Systembiologie Neuherberg.
mitoPROT – Untersuchung der Dynamik von Proteinen und Proteinkomplexen in mitochondrialen Erkrankungen während Verlauf und Behandlung: Dr. I. Wittig, Johann Wolfgang Goethe-Universität Frankfurt am Main – FB 16 Medizin und Klinikum und Dr. D. Meierhofer, Max-Planck-Institut für molekulare Genetik Berlin.
mitoWEAR – Langzeit-Monitoring mittels tragbaren Aktivitätsgeräten: Prof. L. Steinmetz, European Molecular Biology Laboratory (EMBL) Heidelberg; Prof. C. Kornblum, Universitätsklinikum Bonn und Prof. T. Klopstock, LMU Klinikum München.
mitoSAMPLE – Biobank für mitochondriale Erkrankungen: Prof. T. Meitinger, Technische Universität München (TUM) – Institut für Humangenetik München.

Kontakt

Prof. Dr. med. Thomas Klopstock
LMU Klinikum
Friedrich-Baur-Institut
an der Neurologischen Klinik und Poliklinik
Ziemssenstr. 1a
80336 München
E-Mail: thomas.klopstock@med.uni-muenchen.de

Koordinationsbüro:
Dr. Boriana Büchner
Tel: +49 (89) 4400 57067
Boriana.Buechner@med.uni-muenchen.de
Website: www.mitonet.org

Publikationen

13. März 2024 (MitoNet)
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

Brain. 2024 Mar 13. >>PubMed-Link<<

Beryll Blickhäuser, Sarah L Stenton, Christiane M Neuhofer, Elisa Floride, Victoria Nesbitt, Carl Fratter, Johannes Koch, Birgit Kauffmann, Claudia Catarino, Lea Dewi Schlieben, Robert Kopajtich, Valerio Carelli, Alfredo A Sadun, Robert McFarland, Fang Fang, Chiara La Morgia, Stéphanie Paquay, Marie Cécile Nassogne, Daniele Ghezzi, Costanza Lamperti, Saskia Wortmann, Jo Poulton, Thomas Klopstock, Holger Prokisch
28. Februar 2024 (MitoNet)
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

Cell Rep Med. 2024 Feb 28. >>PubMed-Link<<

Patrick Yu-Wai-Man, Valerio Carelli, Nancy J Newman, Magda Joana Silva, Aki Linden, Gregory Van Stavern, Jacek P Szaflik, Rudrani Banik, Wojciech Lubiński, Berthold Pemp, Yaping Joyce Liao, Prem S Subramanian, Marta Misiuk-Hojło, Steven Newman, Lorena Castillo, Jarosław Kocięcki, Marc H Levin, Francisco Jose Muñoz-Negrete, Ali Yagan, Sylvia Cherninkova, David Katz, Audrey Meunier, Marcela Votruba, Magdalena Korwin, Jacek Dziedziak, Neringa Jurkutė, Joshua P Harvey, Chiara La Morgia, Claudia Priglinger, Xavier Llòria, Livia Tomasso, Thomas Klopstock; LEROS Study Group
17. Januar 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

Cell Rep Med. 2024 Jan 17. >>PubMed-Link<<

Serena Jasmine Aleo, Valentina Del Dotto, Martina Romagnoli et al.
14. November 2023 (MitoNet)
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

Mov Disord. 2023 Nov 14. >>PubMed-Link<<

Elisabetta Indelicato, Sylvia Boesch, Niccolo‘ E Mencacci, Daniele Ghezzi, Holger Prokisch, Juliane Winkelmann, Michael Zech
23. Juli 2023 (MitoNet)
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

Mov Disord. 2023 Jul 23. >>PubMed-Link<<

Philip Harrer, Matej Škorvánek, Volker Kittke, Ivana Dzinovic, Friederike Borngräber, Mirja Thomsen, Vanessa Mandel, Tatiana Svorenova, Miriam Ostrozovicova, Kristina Kulcsarova, Riccardo Berutti, Hauke Busch, Fabian Ott, Robert Kopajtich, Holger Prokisch, Kishore R Kumar, Niccolo E Mencacci, Manju A Kurian, Alessio Di Fonzo, Sylvia Boesch, Andrea A Kühn, Ulrike Blümlein, Katja Lohmann, Bernhard Haslinger, David Weise, Robert Jech, Juliane Winkelmann, Michael Zech
2. Juni 2023 (MitoNet)
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial

Neurology. 2023 Jun 2. >>PubMed-Link<<

Amel Karaa, Enrico Bertini, Valerio Carelli, Bruce H Cohen, Gregory M Enns, Marni J Falk, Amy Goldstein, Gráinne Siobhan Gorman, Richard Haas, Michio Hirano, Thomas Klopstock, Mary Kay Koenig, Cornelia Kornblum, Costanza Lamperti, Anna Lehman, Nicola Longo, Maria Judit Molnar, Sumit Parikh, Han Phan, Robert D S Pitceathly, Russell Saneto, Fernando Scaglia, Serenella Servidei, Mark Tarnopolsky, Antonio Toscano, Johan L K Van Hove, John Vissing, Jerry Vockley, Jeffrey S Finman, David A Brown, James A Shiffer, Michelango Mancuso for the MMPOWER-3 Trial Investigators
1. Juni 2023 (MitoNet)
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Genet Med. 2023 Jun. >>PubMed-Link<<

Georg F Vogel, Yael Mozer-Glassberg, Yuval E Landau, Lea D Schlieben, Holger Prokisch, René G Feichtinger, Johannes A Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S Alkuraya, Joshua J Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W Taylor, David R Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann
9. Mai 2023 (MitoNet)
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy

Eur J Neurol. 2023 May 9. >>PubMed-Link<<

Benedikt Schworm, Jakob Siedlecki, Claudia Catarino, Bettina von Livonius, Daniel R Muth, Guenther Rudolph, Joachim Havla, Thomas Klopstock, Claudia Priglinger
1. Mai 2023 (MitoNet)
Aberrant splicing prediction across human tissues

Nat Genet. 2023 May. >>PubMed-Link<<

Nils Wagner, Muhammed H Çelik, Florian R Hölzlwimmer, Christian Mertes, Holger Prokisch, Vicente A Yépez, Julien Gagneur

Details
24. Februar 2023 (MitoNet)
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis

Handb Clin Neurol. 2023. >>PubMed-Link<<

Lea D Schlieben, Holger Prokisch
1. Februar 2023 (MitoNet)
Neuroimaging in mitochondrial disease

Handb Clin Neurol. 2023. >>PubMed-Link<<

Felix Distelmaier, Thomas Klopstock
1. Februar 2023 (MitoNet)
Clinical trials in mitochondrial diseases

Handb Clin Neurol. 2023. >>PubMed-Link<<

Amel Karaa, Thomas Klopstock
5. Januar 2023 (MitoNet)
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

Am J Hum Genet. 2023 Jan 5. >>PubMed-Link<<
>>Published Erratum<<

Maimuna S Paul, Anna R Duncan, Casie A Genetti, Hongling Pan, Adam Jackson, Patricia E Grant, Jiahai Shi, Michele Pinelli, Nicola Brunetti-Pierri, Alexandra Garza-Flores, Dave Shahani, Russell P Saneto, Giuseppe Zampino, Chiara Leoni, Emanuele Agolini, Antonio Novelli, Ulrike Blümlein, Tobias B Haack, Wolfram Heinritz, Eva Matzker, Bader Alhaddad, Rami Abou Jamra, Tobias Bartolomaeus, Saber AlHamdan, Raphael Carapito, Bertrand Isidor, Seiamak Bahram, Alyssa Ritter, Kosuke Izumi, Ben Pode Shakked, Ortal Barel, Bruria Ben Zeev, Amber Begtrup, Deanna Alexis Carere, Sureni V Mullegama, Timothy Blake Palculict, Daniel G Calame, Katharina Schwan, Alicia R P Aycinena, Rasa Traberg; Genomics England Research Consortium; Sofia Douzgou, Harrison Pirt, Naila Ismayilova, Siddharth Banka, Hsiao-Tuan Chao, Pankaj B Agrawal
19. November 2022 (MitoNet)
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

Metabolites. 2022 Nov 19. >>PubMed-Link<<

Pushpa Raj Joshi, Maria Gräfin Zu Stolberg-Stolberg, Leila Motlagh Scholle, Beate Meinhardt, Elena Pegoraro, Stephan Zierz
1. September 2022 (MitoNet)
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

Kidney Int. 2022 Sept. >>PubMed-Link<<

Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Szymon Ziętkiewicz, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Anne M Schijvens, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Fang Deng, Caroline Rousset-Rouviere, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer
1. September 2022 (MitoNet)
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Kidney Int. 2022 Sept. >>PubMed-Link<<

Stefania Drovandi, Beata S Lipska-Ziętkiewicz, Fatih Ozaltin, Francesco Emma, Bora Gulhan, Olivia Boyer, Agnes Trautmann, Hong Xu, Qian Shen, Jia Rao, Korbinian M Riedhammer, Uwe Heemann, Julia Hoefele, Sarah L Stenton, Alexey N Tsygin, Kar-Hui Ng, Svitlana Fomina, Elisa Benetti, Manon Aurelle, Larisa Prikhodina, Michiel F Schreuder, Mansoureh Tabatabaeifar, Maciej Jankowski, Sergey Baiko, Jianhua Mao, Chunyue Feng, Cuihua Liu, Shuzhen Sun , Fang Deng, Xiaowen Wang, Stéphanie Clavé, Małgorzata Stańczyk, Irena Bałasz-Chmielewska, Marc Fila, Anne M Durkan, Tanja Kersnik Levart, Ismail Dursun, Nasrin Esfandiar, Dorothea Haas, Anna Bjerre, Ali Anarat, Marcus R Benz, Saeed Talebi, Nakysa Hooman, Gema Ariceta, PodoNet Consortium, mitoNET Consortium, CCGKDD Consortium, Franz Schaefer
1. September 2022 (MitoNet)
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

Mov Disord. 2022 Sep 1. >>PubMed-Link<<

Isabell Cordts, Luisa Semmler, Jannik Prasuhn, Annette Seibt, Diran Herebian, Tharsini Navaratnarajah, Joohyun Park, Natalie Deininger, Lucia Laugwitz, Sophia L Göricke, Paul Lingor, Norbert Brüggemann, Alexander Münchau, Matthis Synofzik, Dagmar Timmann, Johannes A Mayr, Tobias B Haack, Felix Distelmaier, Marcus Deschauer
31. August 2022 (MitoNet)
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

Nutrients. 2022 Aug 31. >>PubMed-Link<<

Bigna K Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A Mayr, Holger Prokisch, Saskia B Wortmann
18. August 2022 (MitoNet)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<

Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin

joint publication ADDRess/MyPred//mitoNET
18. August 2022 (MitoNet)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

J Natl Cancer Inst. 2022 Aug 18. >>PubMed-Link<<

Christian P Kratz, Dmitrii Smirnov, Robert Autry, Natalie Jäger, Sebastian M Waszak, Anika Großhennig, Riccardo Berutti, Mareike Wendorff, Pierre Hainaut, Stefan M Pfister, Holger Prokisch, Tim Ripperger, David Malkin

joint publication ADDRess/MyPred/mitoNET
9. August 2022 (MitoNet)
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

Orphanet J Rare Dis. 2022 Aug 9. >>PubMed-Link<<

Julia Zibold, Bettina von Livonius, Hana Kolarova, Günter Rudolph, Claudia S Priglinger, Thomas Klopstock, Claudia B Catarino
14. Juni 2022 (MitoNet)
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin

Mov Disord. 2022 Jun 14. >>PubMed-Link<<

Isabell Cordts, Demet Önder, Andreas Traschütz, Xenia Kobeleva, Ivan Karin, Martina Minnerop, Peter Koertvelyessy, Saskia Biskup, Stephan Forchhammer, Johannes Binder, Andreas Tzschach, Frank Meiss, Axel Schmidt, Martina Kreiß, Kirsten Cremer, Martin A Mensah, Joohyun Park, Maren Rautenberg, Natalie Deininger, Marc Sturm, Paul Lingor, Thomas Klopstock, Markus Weiler, Franz Marxreiter, Matthis Synofzik, Christian Posch, Judith Sirokay, Thomas Klockgether, Tobias B Haack, Marcus Deschauer
1. Juni 2022 (MitoNet)
How many molecules of mitochondrial complex I are in a cell?

Anal Biochem. 2022 Jun 1. >>PubMed-Link<<

Fariha Ansari, Belem Yoval, Zoya Niatsetskaya, Vadim Ten, Ilka Wittig, Alexander Galkin
29. Mai 2022 (MitoNet)
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

Hum Mutat. 2022 May 29. >>PubMed-Link<<

Dmitrii Smirnov, Lea D Schlieben, Fatemeh Peymani, Riccardo Berutti, Holger Prokisch
1. Mai 2022 (MitoNet)
Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart

Redox Biol. 2022 May. >>PubMed-Link<<

Belem Yoval-Sánchez, Fariha Ansari, Joel James, Zoya Niatsetskaya, Sergey Sosunov, Peter Filipenko, Irina G Tikhonova, Vadim Ten, Ilka Wittig, Ruslan Rafikov, Alexander Galkin
5. April 2022 (MitoNet)
Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Genome Med. 2022 Apr 5. >>PubMed-Link<<

Vicente A Yépez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H Smith, Charlotte L Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J Hayflick, Maja Hempel, Yulia S Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana D Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela F Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L Stenton, Tim M Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A Mayr, Dorota Piekutowska-Abramczuk, Antonia Ribes, Agnès Rötig, Robert W Taylor, Saskia B Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

Details
1. März 2022 (MitoNet)
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

Adv Genet (Hoboken). 2022 Mar. >>PubMed-Link<<

Amel Karaa, Laura E MacMullen, John C Campbell, John Christodoulou, Bruce H Cohen, Thomas Klopstock, Yasutoshi Koga, Costanza Lamperti, Rob van Maanen, Robert McFarland, Sumit Parikh, Shamima Rahman, Fernando Scaglia, Alexander V Sherman, Philip Yeske, Marni J Falk
21. Februar 2022 (MitoNet)
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery

Br J Ophthalmol. 2022 Feb 21. >>PubMed-Link<<

Jakob Siedlecki, Susanna Koenig, Claudia Catarino, Markus M Schaumberger, Benedikt Schworm, Siegfried Georg Priglinger, Guenther Rudolph, Bettina von Livonius, Thomas Klopstock, Claudia S Priglinger
18. Februar 2022 (MitoNet)
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

Biomolecules. 2022 Feb 18. >>PubMed-Link<<

Maike Werning, Verena Dobretzberger, Martin Brenne, Ernst W Müllner, Georg Mlynek, Kristina Djinovic-Carugo, David M Baron, Lena Fragner, Almut T Bischoff, Boriana Büchner, Thomas Klopstock, Wolfram Weckwerth, Ulrich Salzer
10. Februar 2022 (MitoNet)
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

Brain. 2022 Feb 10. >>PubMed-Link<<

Sarah L Stenton, Marketa Tesarova, Natalia L Sheremet, Claudia Catarino, Valerio Carelli, Elżbieta Ciara, Kathryn Curry, Martin Engvall, Leah R Fleming, Peter Freisinger, Katarzyna Iwanicka-Pronicka, Elżbieta Jurkiewicz, Thomas Klopstock, Mary K Koenig, Hana Kolářová, Bohdan Kousal, Tatiana Krylova, Chiara La Morgia, Lenka Nosková, Dorota Piekutowska-Abramczuk, Sam N Russo, Viktor Stránecký, Iveta Tóthová, Frank Träisk, Holger Prokisch

Details
20. Januar 2022 (MitoNet)
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

Annals of Neurology. 2022 Feb. Epub 2022 Jan 20. >>PubMed-Link<<

Michael Zech, Robert Kopajtich, Katja Steinbrücker, Céline Bris, Naig Gueguen, René G Feichtinger, Melanie T Achleitner, Neslihan Duzkale, Maximilien Périvier, Johannes Koch, Harald Engelhardt, Peter Freisinger, Matias Wagner, Theresa Brunet, Riccardo Berutti, Dmitrii Smirnov, Tharsini Navaratnarajah, Richard J T Rodenburg, Lynn S Pais, Christina Austin-Tse, Melanie O’Leary, Sylvia Boesch, Robert Jech, Somayeh Bakhtiari, Sheng Chih Jin, Friederike Wilbert, Michael C Kruer, Saskia B Wortmann, Matthias Eckenweiler, Johannes A Mayr, Felix Distelmaier, Robert Steinfeld, Juliane Winkelman, Holger Prokisch
6. Januar 2022 (MitoNet)
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

Human Mutation. 2022 Jan 6. >>PubMed-Link<<

Marcello Scala, Saskia B Wortmann, Namik Kaya, Menno D Stellingwerff, Angela Pistorio, Emma Glamuzina, Clara D van Karnebeek, Cristina Skrypnyk, Katarzyna Iwanicka-Pronicka, Dorota Piekutowska-Abramczuk, Elżbieta Ciara, Frederic Tort, Beth Sheidley, Annapurna Poduri, Parul Jayakar, Anuj Jayakar, Jariya Upadia, Nicolette Walano, Tobias B Haack, Holger Prokisch, Hesham Aldhalaan, Ehsan G Karimiani, Yilmaz Yildiz, Ahmet C Ceylan, Teresa Santiago-Sim, Amy Dameron, Hui Yang, Mehran B Toosi, Farah Ashrafzadeh, Javad Akhondian, Shima Imannezhad, Hanieh S Mirzadeh, Shazia Maqbool, Aisha Farid, Mohamed A Al-Muhaizea, Meznah O Alshwameen, Lama Aldowsari, Maysoon Alsagob, Ashwaq Alyousef, Rawan AlMass, Aljouhra AlHargan, Ali H Alwadei, Maha M AlRasheed, Dilek Colak, Hanan Alqudairy, Sameena Khan, Matthew A Lines, M Ángeles García Cazorla, Antonia Ribes, Eva Morava, Farah Bibi, Shahzad Haider, Matteo P Ferla, Jenny C Taylor, Hessa S Alsaif, Abdulwahab Firdous, Mais Hashem, Chingiz Shashkin, Kairgali Koneev, Rauan Kaiyrzhanov, Stephanie Efthymiou, Queen Square Genomics, Thomas Schmitt-Mechelke, Andreas Ziegler, Mahmoud Y Issa, Hasnaa M Elbendary, Pasquale Striano, Fowzan S Alkuraya, Maha S Zaki, Joseph G Gleeson, Tahsin Stefan Barakat, Jorgen Bierau, Marjo S van der Knaap, Reza Maroofian, Henry Houlden
1. Januar 2022 (MitoNet)
Mitochondrial Retinopathy

Ophthalmol Retina. 2022 Jan. Epub 2021 Jul 10. >>PubMed-Link<<

Johannes Birtel, Christina von Landenberg, Martin Gliem, Carla Gliem, Jens Reimann, Wolfram S Kunz, Philipp Herrmann, Christian Betz, Richard Caswell, Victoria Nesbitt, Cornelia Kornblum, Peter Charbel Issa
29. November 2021 (MitoNet)
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

Cells. 2021 Nov 29. >>PubMed-Link<<

Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger
8. November 2021 (MitoNet)
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes

EMBO Mol Med. 2021 Nov 8. >>PubMed-Link<<

Silvia Vidali, Raffaele Gerlini, Kyle Thompson, Jill E Urquhart, Jana Meisterknecht, Juan Antonio Aguilar-Pimentel, Oana V Amarie, Lore Becker, Catherine Breen, Julia Calzada-Wack, Nirav F Chhabra, Yi-Li Cho, Patricia da Silva-Buttkus, René G Feichtinger, Kristine Gampe, Lillian Garrett, Kai P Hoefig, Sabine M Hölter, Elisabeth Jameson, Tanja Klein-Rodewald, Stefanie Leuchtenberger, Susan Marschall, Philipp Mayer-Kuckuk, Gregor Miller, Manuela A Oestereicher, Kristina Pfannes, Birgit Rathkolb, Jan Rozman, Charlotte Sanders, Nadine Spielmann, Claudia Stoeger, Marten Szibor, Irina Treise, John H Walter, Wolfgang Wurst, Johannes A Mayr, Helmut Fuchs, Ulrich Gärtner, Ilka Wittig, Robert W Taylor, William G Newman, Holger Prokisch, Valerie Gailus-Durner, Martin Hrabě de Angelis
5. November 2021 (MitoNet)
Mitochondriale Erkrankungen

Dtsch Arztebl Int. 2021 Nov 5 . >>PubMed-Link<<

Thomas Klopstock, Claudia Priglinger, Ali Yilmaz, Cornelia Kornblum, Felix Distelmaier, Holger Prokisch
1. November 2021 (MitoNet)
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

J Exp Med. 2021 Nov 1. >>PubMed-Link<<

Amelie T van der Ven, Jessika Johannsen, Fanny Kortüm, Matias Wagner, Konstantinos Tsiakas, Tatjana Bierhals, Davor Lessel, Theresia Herget, Katja Kloth, Jasmin Lisfeld, Tasja Scholz, Nadia Obi, Saskia Wortmann, Holger Prokisch, Christian Kubisch, Jonas Denecke, René Santer, Maja Hempel
22. Oktober 2021 (MitoNet)
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

Brain. 2021 Oct 22. >>PubMed-Link<<

Federica Invernizzi, Andrea Legati, Alessia Nasca, Eleonora Lamantea, Barbara Garavaglia, Mirjana Gusic, Robert Kopajtich, Holger Prokisch, Massimo Zeviani, Costanza Lamperti, Daniele Ghezzi
21. Oktober 2021 (MitoNet)
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

Mol Ther Nucleic Acids. 2021 Oct 21. >>PubMed-Link<<

Christoph Jüschke, Thomas Klopstock, Claudia B Catarino, Marta Owczarek-Lipska, Bernd Wissinger, John Neidhardt
14. Oktober 2021 (MitoNet)
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

Int J Mol Sci. 2021 Oct 14. >>PubMed-Link<<

Matthias Elstner, Konrad Olszewski, Holger Prokisch, Thomas Klopstock, Marta Murgia
1. Oktober 2021 (MitoNet)
Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples

J Biol Chem. 2021 Oct. >>PubMed-Link<<

Fariha Ansari, Belem Yoval-Sánchez, Zoya Niatsetskaya, Sergey Sosunov, Anna Stepanova, Christian Garcia, Edward Owusu-Ansah, Vadim Ten, Ilka Wittig, Alexander Galkin
1. Oktober 2021 (MitoNet)
Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

Int Ophthalmol Clin. 2021 Oct 1. >>PubMed-Link<<

José-Alain Sahel, Nancy J Newman, Patrick Yu-Wai-Man, Catherine Vignal-Clermont, Valerio Carelli, Valérie Biousse, Mark L Moster, Robert Sergott, Thomas Klopstock, Alfredo A Sadun, Laure Blouin, Barrett Katz, Magali Taiel
1. Oktober 2021 (MitoNet)
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

Neurogenetic. 2021 Oct. >>PubMed-Link<<

Maletzko A., Key J., Wittig I., Gispert S., Koepf G., Canet-Pons J., Torres-Odio S., West A. P., Auburger G.
1. September 2021 (MitoNet)
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies

J Neuroophthalmol. 2021 Sep 1. >>PubMed-Link<<

Mark L Moster, Robert C Sergott, Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Molly Scannell Bryan, Gerard Smits, Valérie Biousse, Catherine Vignal-Clermont, Thomas Klopstock, Alfredo A Sadun, Adam A DeBusk, Michele Carbonelli, Rabih Hage, Siegfried Priglinger, Rustum Karanjia, Laure Blouin, Magali Taiel, Barrett Katz, José Alain Sahel, LHON study group
6. August 2021 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack

joint publication mitoNET/TreatHSP.net

Details
1. August 2021 (MitoNet)
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

Mol Genet Metab. 2021 Aug. >>PubMed-Link<<

Marisa W Friederich, Gabrielle C Geddes, Saskia B Wortmann, Ann Punnoose, Eric Wartchow, Kaz M Knight, Holger Prokisch, Geralyn Creadon-Swindell, Johannes A Mayr, Johan L K Van Hove
26. Juli 2021 (MitoNet)
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

Bone Rep. 2021 Jul 26. >>PubMed-Link<<

Ahmed El-Gazzar, Johannes A Mayr, Barbara Voraberger, Karin Brugger, Stéphane Blouin, Katharina Tischlinger, Hans-Christoph Duba, Holger Prokisch, Nadja Fratzl-Zelman, Wolfgang Högler
21. Juli 2021 (MitoNet)
Complexome Profiling: Assembly and Remodeling of Protein Complexes

Int J Mol Sci. 2021 Jul 21. >>PubMed-Link<<

Ilka Wittig, Pedro Felipe Malacarne
20. Juli 2021 (MitoNet)
Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data

Brief Bioinform. 2021 Jul 20. >>PubMed-Link<<

Heike Deutelmoser, Dominique Scherer, Hermann Brenner, Melanie Waldenberger, INTERVAL study; Karsten Suhre, Gabi Kastenmüller, Justo Lorenzo Bermejo
20. Juli 2021 (MitoNet)
Natural History of Polymerase Gamma-Related Ataxia

Mov Disord. 2021 Jul 20. >>PubMed-Link<<

Friedemann Bender, Dagmar Timmann, Bart P van de Warrenburg, Astrid D Adarmes-Gómez, Benjamin Bender, Andreas Thieme, Matthis Synofzik, Ludger Schöls
1. Juli 2021 (MitoNet)
Mitochondrial disease in adults: recent advances and future promise

Lancet Neurol. 2021 Jul. >>PubMed-Link<<

Ng, Y. S., Bindoff, L. A., Gorman, G. S., Klopstock, T., Kornblum, C., Mancuso, M., McFarland, R., Sue, C. M., Suomalainen, A., Taylor, R. W., Thorburn, D. R., Turnbull, D. M.

Details
1. Juli 2021 (MitoNet)
CEDAR, an online resource for the reporting and exploration of complexome profiling data

Biochim Biophys Acta Bioenerg. 2021 Jul 1. >>PubMed-Link<<

Joeri van Strien, Alexander Haupt, Uwe Schulte, Hans-Peter Braun, Alfredo Cabrera-Orefice, Jyoti S Choudhary, Felix Evers, Erika Fernandez-Vizarra, Sergio Guerrero-Castillo, Taco W A Kooij, Petra Páleníková, Mercedes Pardo, Cristina Ugalde, Ilka Wittig, Lars Wöhlbrand, Ulrich Brandt, Susanne Arnold, Martijn A Huynen
2. Juni 2021 (MitoNet)
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

Commun Biol. 2021 Jun 2. >>PubMed-Link<<

Alexandra Stavsky, Ohad Stoler, Marko Kostic, Tomer Katoshevsky, Essam A Assali, Ivana Savic, Yael Amitai, Holger Prokisch, Steffen Leiz, Cornelia Daumer-Haas, Ilya Fleidervish, Fabiana Perocchi, Daniel Gitler, Israel Sekler
1. Juni 2021 (MitoNet)
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

Front Mol Biosci. 2021 Jun 1. >>PubMed-Link<<

Schlieben, L. D., Prokisch, H., Yepez, V. A.
1. Juni 2021 (MitoNet)
Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes

Physiol Rep. 2021 Jun. >>PubMed-Link<<

Daniela Schranner, Martin Schönfelder, Werner Römisch-Margl, Johannes Scherr, Jürgen Schlegel, Otto Zelger, Annett Riermeier, Stephanie Kaps, Cornelia Prehn, Jerzy Adamski, Quirin Söhnlein, Fabian Stöcker, Florian Kreuzpointner, Martin Halle, Gabi Kastenmüller, Henning Wackerhage
24. Mai 2021 (MitoNet)
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

Frontiers In Neurology. May 24. >>PubMed-Link<<

Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Biousse, Valerie; Moster, Mark L.; et al.
11. März 2021 (MitoNet)
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

Orphanet J Rare Dis. 2021 Mar 11. >>PubMed-Link<<

Andrea Rabenstein, Claudia B Catarino, Verena Rampeltshammer, David Schindler, Constanze Gallenmüller, Claudia Priglinger, Oliver Pogarell, Tobias Rüther, Thomas Klopstock
3. März 2021 (MitoNet)
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

Brain. 2021 Mar 3. >>PubMed-Link<<

Korbinian M Riedhammer, Sylvia Stockler, Rafal Ploski, Maren Wenzel, Burkhard Adis-Dutschmann, Uwe Ahting, Bader Alhaddad, Astrid Blaschek, Tobias B Haack, Robert Kopajtich, Jessica Lee, Victor Murcia Pienkowski, Agnieszka Pollak, Krystyna Szymanska, Maja Tarailo-Graovac, Robin van der Lee, Clara D van Karnebeek, Thomas Meitinger, Ingeborg Krägeloh-Mann, Katharina Vill
2. März 2021 (MitoNet)
Genetic basis of mitochondrial diseases

FEBS Lett. 2021 Mar 2. >>PubMed-Link<<

Mirjana Gusic, Holger Prokisch
1. März 2021 (MitoNet)
Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

Nat Med. 2021 Mar. >>PubMed-Link<<

Maik Pietzner, Isobel D Stewart, Johannes Raffler, Kay-Tee Khaw, Gregory A Michelotti, Gabi Kastenmüller, Nicholas J Wareham, Claudia Langenberg
26. Februar 2021 (MitoNet)
The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

Ther Adv Neurol Disord. 2021 Feb 26. >>PubMed-Link<<

Diana Lehmann Urban, Mohamed Mohamed, Albert C Ludolph, Jan Kassubek, Angela Rosenbohm
14. Februar 2021 (MitoNet)
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

J Pathol. 2021 Feb 14. >>PubMed-Link<<

Charlotte L Alston, Sarah L Stenton, Gavin Hudson, Holger Prokisch, Robert W Taylor
4. Februar 2021 (MitoNet)
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

Orphanet J Rare Dis. 2021 Feb 4. >>PubMed-Link<<
Marie‑Christine Reinert, David Pacheu‑Grau, Claudia B. Catarino, Thomas Klopstock, Andreas Ohlenbusch, Michael Schittkowski, Ekkehard Wilichowski, Peter Rehling, Knut Brockmann
22. Januar 2021 (MitoNet)
Detection of aberrant splicing events in RNA-seq data using FRASER

Nat Commun. 2021 Jan 22. >>PubMed-Link<<

Christian Mertes, Ines F Scheller, Vicente A Yépez, Muhammed H Çelik, Yingjiqiong Liang, Laura S Kremer, Mirjana Gusic, Holger Prokisch, Julien Gagneur
19. Januar 2021 (MitoNet)
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

J Clin Invest. 2021 Jan 19. >>PubMed-Link<<

Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor O Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Heon, Yulia S Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Reka Kovacs-Nagy, Tatiana Krylova, Wolfram S Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro F Malacarne, Alessandra Maresca, Johannes A Mayr, Jana Meisterknecht, Tatiana Nevinitsyna, Flavia Palombo, Ben Pode-Shakked, Maria S Shmelkova, Tim M Strom, Francesca Tagliavini, Michal Tzadok, Amelie T van der Ven, Catherine Vignal-Clermont, Matias Wagner, Ekaterina Zakharova, Nino Zhorzholadze, Jen-Michel Rozet, Valerio Carelli, Polina Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch
18. Januar 2021 (MitoNet)
Detection of aberrant gene expression events in RNA sequencing data

Nat Protoc. 2021 Jan 18. >>PubMed-Link<<

Vicente A Yépez, Christian Mertes, Michaela F Müller, Daniela Klaproth-Andrade, Leonhard Wachutka, Laure Frésard, Mirjana Gusic, Ines F Scheller, Patricia F Goldberg, Holger Prokisch, Julien Gagneur
12. Januar 2021 (MitoNet)
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

Ophtalmology. 2021 Jan 12. >>PubMed-Link<<

Nancy J Newman, Patrick Yu-Wai-Man, Valerio Carelli, Mark L Moster, Valerie Biousse, Catherine Vignal-Clermont, Robert C Sergott, Thomas Klopstock, Alfredo A Sadun, Piero Barboni, Adam A DeBusk, Jean François Girmens , Günther Rudolph, Rustum Karanjia, Magali Taiel, Laure Blouin, Gerard Smits, Barrett Katz, José-Alain Sahel, LHON Study Group
1. Januar 2021 (MitoNet)
Mitochondrial Complexome Profiling

Methods Mol Biol. 2021. >>PubMed-Link<<

Heiko Giese, Jana Meisterknecht, Juliana Heidler, Ilka Wittig
21. Dezember 2020 (MitoNet)
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

Hum Mutat. 2020 Dec 21. [Epub ahead of print] >>PubMed-Link<<

Sarah L Stenton, Dorota Piekutowska-Abramczuk, Lea Kulterer, Robert Kopajtich, Kristl G Claeys, Elżbieta Ciara, Johannes Eisen, Rafał Płoski, Ewa Pronicka, Katarzyna Malczyk, Matias Wagner, Saskia B Wortmann, Holger Prokisch
9. Dezember 2020 (MitoNet)
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

Sci Transl Med. 2020 Dec 9. [Epub ahead of print] >>PubMed-Link<<

Patrick Yu-Wai-Man, Nancy J Newman, Valerio Carelli, Mark L Moster, Valerie Biousse, Alfredo A Sadun, Thomas Klopstock, Catherine Vignal-Clermont, Robert C Sergott, Günther Rudolph, Chiara La Morgia, Rustum Karanjia, Magali Taiel, Laure Blouin, Pierre Burguière, Gerard Smits, Caroline Chevalier, Harvey Masonson, Yordak Salermo, Barrett Katz, Serge Picaud, David J Calkins, José-Alain Sahel

Details
26. November 2020 (MitoNet)
The Dimensions of Primary Mitochondrial Disorders

Front Cell Dev Biol. 2020 Nov 26. [Epub ahead of print] >>PubMed-Link<<

Lea D Schlieben, Holger Prokisch
22. November 2020 (MitoNet)
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

Mol Genet Metab Rep. 2020 Nov 22. >>PubMed-Link<<

Lara M Marten, Florian Brinkert, Desirée E C Smith, Holger Prokisch, Maja Hempel, René Santer
1. November 2020 (MitoNet)
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

Eur J Med Genet. 2020 Nov. [Epub ahead of print] >>PubMed-Link<<

Sabine Illsinger, G Christoph Korenke, Sylvia Boesch, Michael Nocker, Daniela Karall, Jean M Nuoffer, Lucia Laugwitz, Johannes A Mayr, Sabine Scholl-Bürgi, Peter Freisinger, Tobias Kowald, Stefan Kölker, Holger Prokisch, Tobias B Haack
13. Oktober 2020 (MitoNet)
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

Neurol Genet. 2020 Oct 13. eCollection 2020 Dec. >>PubMed-Link<<

Florentine Radelfahr, Korbinian M Riedhammer, Leonie F Keidel, Gwendolyn Gramer, Thomas Meitinger, Thomas Klopstock, Matias Wagner
1. Oktober 2020 (MitoNet)
MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes

Life Sci Alliance. 2020 Oct 1. [Epub ahead of print] >>PubMed-Link<<

Ruchika Anand, Arun Kumar Kondadi, Jana Meisterknecht, Mathias Golombek, Oliver Nortmann, Julia Riedel, Leon Peifer-Weiß, Nahal Brocke-Ahmadinejad, David Schlütermann, Björn Stork, Thomas O Eichmann, Ilka Wittig, Andreas S Reichert
24. September 2020 (MitoNet)
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

EMBO Mol Med. 2020 Sep 24. [Epub ahead of print] >>PubMed-Link<<

Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor
18. September 2020 (MitoNet)
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

J Neuromuscul Dis. 2020;7(4):367-393. [Epub ahead of print 2020 Sep 18] >>PubMed-Link<<

Reimann J, Kornblum C
25. August 2020 (MitoNet)
Mitochondrial Regulation of the 26S Proteasome

Cell Rep. 2020 Aug 25. [Epub ahead of print] >>PubMed-Link<<

Thomas Meul, Korbinian Berschneider, Sabine Schmitt, Christoph H Mayr, Laura F Mattner, Herbert B Schiller, Ayse S Yazgili, Xinyuan Wang, Christina Lukas, Camille Schlesser, Cornelia Prehn, Jerzy Adamski, Elisabeth Graf, Thomas Schwarzmayr, Fabiana Perocchi, Alexandra Kukat, Aleksandra Trifunovic, Laura Kremer, Holger Prokisch, Bastian Popper, Christine von Toerne, Stefanie M Hauck, Hans Zischka, Silke Meiners
6. August 2020 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

Am J Hum Genet. 2020 Aug 6. [Epub ahead of print] >>PubMed-Link<<

Ralf A Husain, Mona Grimmel, Matias Wagner, J Christopher Hennings, Christian Marx, René G Feichtinger, Abdelkrim Saadi, Kevin Rostásy, Florentine Radelfahr, Andrea Bevot, Marion Döbler-Neumann, Hans Hartmann, Laurence Colleaux, Isabell Cordts, Xenia Kobeleva, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Arnaud Besse, Andy Cheuk-Him Ng, Diana Chiang, Francois Bolduc, Abbas Tafakhori, Shrikant Mane, Saghar Ghasemi Firouzabadi, Antje K Huebner, Rebecca Buchert, Stefanie Beck-Woedl, Amelie J Müller, Lucia Laugwitz, Thomas Nägele, Zhao-Qi Wang, Tim M Strom, Marc Sturm, Thomas Meitinger, Thomas Klockgether, Olaf Riess, Thomas Klopstock, Ulrich Brandl, Christian A Hübner, Marcus Deschauer, Johannes A Mayr, Penelope E Bonnen, Ingeborg Krägeloh-Mann, Saskia B Wortmann, Tobias B Haack

Details
24. Juli 2020 (MitoNet)
The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation

Biomolecules. 2020 Jul 24. [Epub ahead of print] >>PubMed-Link<<

Leila Motlagh Scholle, Helena Schieffers, Samiya Al-Robaiy, Annemarie Thaele, Faramarz Dehghani, Diana Lehmann Urban, Stephan Zierz
8. Juni 2020 (MitoNet)
Multiple Pathways Coordinate Assembly of Human Mitochondrial Complex IV and Stabilization of Respiratory Supercomplexes

EMBO J. 2020 Jun 8. [Epub ahead of print] >>PubMed-Link<<

Teresa Lobo-Jarne, Rafael Pérez-Pérez, Flavia Fontanesi, Alba Timón-Gómez, Ilka Wittig, Ana Peñas, Pablo Serrano-Lorenzo, Inés García-Consuegra, Joaquín Arenas, Miguel A Martín, Antoni Barrientos, Cristina Ugalde
1. Juni 2020 (MitoNet)
The Clinical Application of RNA Sequencing in Genetic Diagnosis of Mendelian Disorders

Clin Lab Med. 2020 Jun >>PubMed-Link<<

Sarah L Stenton, Holger Prokisch
1. Juni 2020 (MitoNet)
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis

EBioMedicine. 2020 Jun. [Epub ahead of print] >>PubMed-Link<<

Sarah L Stenton, Holger Prokisch
16. April 2020 (MitoNet)
Lifetime Risk of Autosomal Recessive Mitochondrial Disorders Calculated From Genetic Databases

EBioMedicine. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<

Jing Tan, Matias Wagner, Sarah L Stenton, Tim M Strom, Saskia B Wortmann, Holger Prokisch, Thomas Meitinger, Konrad Oexle, Thomas Klopstock
2. April 2020 (MitoNet)
A Salvage Pathway Maintains Highly Functional Respiratory Complex I

Nat Commun. 2020 Apr 2. >>PubMed-Link<<

Karolina Szczepanowska, Katharina Senft, Juliana Heidler, Marija Herholz, Alexandra Kukat, Michaela Nicole Höhne, Eduard Hofsetz, Christina Becker, Sophie Kaspar, Heiko Giese, Klaus Zwicker, Sergio Guerrero-Castillo, Linda Baumann, Johanna Kauppila Anastasia Rumyantseva, Stefan Müller, Christian K Frese, Ulrich Brandt, Jan Riemer, Ilka Wittig, Aleksandra Trifunovic
1. April 2020 (MitoNet)
Antisense-Mediated Skipping of Dysferlin Exons in Control and Dysferlinopathy Patient-Derived Cells

Nucleic Acid Ther. 2020 Apr. [Epub ahead of print] >>PubMed-Link<<

Nisha Verwey, Isabella Gazzoli, Sabine Krause, Kamel Mamchaoui, Vincent Mouly, Annemieke Aartsma-Rus
1. April 2020 (MitoNet)
Progressive external ophthalmoplegia due a recurrent de-novo m.15990C>T MT-TP (mt-tRNAPro) gene variant

Neuromuscul Disord. 2020 Apr;30(4):346-350 >>PubMed-Link<<

Joshi PR, Baty K, Hopton S, Cordts I, Falkous G, Schoser B, Blakely EL, Taylor RW, Deschauer M
10. Februar 2020 (MitoNet)
Respiratory chain signalling is essential for adaptive remodelling following cardiac ischaemia

J Cell Mol Med. 2020 Feb 10. [Epub ahead of print]>>PubMed-Link<<

Szibor M, Schreckenberg R, Gizatullina Z, Dufour E, Wiesnet M, Dhandapani PK, Debska-Vielhaber G, Heidler J, Wittig I, Nyman TA8, Gärtner U, Hall AR, Pell V, Viscomi C, Krieg T, Murphy MP, Braun T, Gellerich FN, Schlüter KD, Jacobs HT.
1. Februar 2020 (MitoNet)
Bioenergetic consequences from xenotopic expression of a tunicate AOX in mouse mitochondria: Switch from RET and ROS to FET

Biochim Biophys Acta Bioenerg. 2020 Feb 1. [Epub ahead of print] >>PubMed-Link<<

Szibor M, Gainutdinov T, Fernandez-Vizarra E, Dufour E, Gizatullina Z, Debska-Vielhaber G, Heidler J, Wittig I, Viscomi C, Gellerich F, Moore AL.
30. Januar 2020 (MitoNet)
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

Hum Mutat. 2020 Jan 30. [Epub ahead of print] >>PubMed-Link<<

Ascari G, Peelman F, Farinelli P, Rosseel T, Lambrechts N, Wunderlich KA, Wagner M, Nikopoulos K, Martens P, Balikova I, Derycke L, Holtappels G, Krysko O, Van Laethem T, De Jaegere S, Guillemyn B, De Rycke R, De Bleecker J, Creytens D, Van Dorpe J, Gerris J, Bachert C, Neuhofer C, Walraedt S, Bischoff A, Pedersen LB, Klopstock T, Rivolta C, Leroy BP, De Baere E, Coppieters F.
13. Januar 2020 (MitoNet)
Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration.

Neurol Genet. 2020 Jan 13 >> PubMed-Link<<

Stendel C, Neuhofer C, Floride E, Yuqing S, Ganetzky RD, Park J, Freisinger P, Kornblum C, Kleinle S, Schöls L, Distelmaier F, Stettner GM, Büchner B, Falk MJ, Mayr JA, Synofzik M, Abicht A, Haack TB, Prokisch H, Wortmann SB, Murayama K, Fang F, Klopstock T; ATP6 Study Group
2. Januar 2020 (MitoNet)
Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

Am J Hum Genet. 2020 Jan 2. >>PubMed-Link<<

Mirjana Gusic, Gudrun Schottmann, René G Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A Mayr, Chae-Young Lee, Vicente A Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M Panneman, Agnès Rötig, Richard J T Rodenburg, Saskia B Wortmann, Holger Prokisch, Markus Schuelke
2. Januar 2020 (MitoNet)
Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency

Am J Hum Genet. 2020 Jan 2. [Epub ahead of print] >> PubMed-Link<<

Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW.
1. Januar 2020 (MitoNet)
The diagnosis of inborn errors of metabolism by an integrative „multi-omics“ approach: A perspective encompassing genomics, transcriptomics, and proteomics

J Inherit Metab Dis. 2020 Jan. [Epub ahead of print] >>PubMed-Link<<

Stenton SL, Kremer LS, Kopajtich R, Ludwig C, Prokisch H.
17. Dezember 2019 (MitoNet)
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy

Cell Rep. 2019 Dec 17. [Epub ahead of print] >>PubMed-Link<<

Murgia M, Tan J, Geyer PE, Doll S, Mann M, Klopstock T.
13. Dezember 2019 (MitoNet)
Consensus-based statements for the management of mitochondrial stroke-like episodes

Wellcome Open Res. 2019 Dec 13;4:201. eCollection 2019 >>PubMed-Link<<

Ng YS, Bindoff LA, Gorman GS, Horvath R, Klopstock T, Mancuso M, Martikainen MH, Mcfarland R, Nesbitt V, Pitceathly RDS, Schaefer AM, Turnbull DM.
11. Dezember 2019 (MitoNet)
High-resolution cryo-EM Structures of Respiratory Complex I: Mechanism, Assembly, and Disease

Sci Adv. 2019 Dec 11. [Epub ahead of print] >>PubMed-Link<<

Kristian Parey, Outi Haapanen, Vivek Sharma, Harald Köfeler, Thomas Züllig, Simone Prinz, Karin Siegmund, Ilka Wittig, Deryck J Mills, Janet Vonck, Werner Kühlbrandt, Volker Zickermann
1. November 2019 (MitoNet)
Leberʼsche hereditäre Optikusneuropathie [Leber’s Hereditary Optic Neuropathy]

Klin Monbl Augenheilkd. 2019 Nov. >>PubMed-Link<<

Claudia Priglinger, Thomas Klopstock Günter Rudolph, Siegfried Georg Priglinger
29. Oktober 2019 (MitoNet)
Arabidopsis thaliana alternative dehydrogenases: a potential therapy for mitochondrial complex I deficiency? Perspectives and pitfalls

Orphanet J Rare Dis. 2019 Oct 29. >>PubMed-Link<<

Catania A1, Iuso A, Bouchereau J, Kremer LS, Paviolo M, Terrile C, Bénit P, Rasmusson AG, Schwarzmayr T, Tiranti V, Rustin P, Rak M, Prokisch H, Schiff M.
24. September 2019 (MitoNet)
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder

J Clin Invest. 2019 Sep 24. [Epub ahead of print] >>PubMed-Link<<

Del Dotto V, Ullah F, Di Meo I, Magini P, Gusic M, Maresca A, Caporali L, Palombo F, Tagliavini F, Baugh EH, Macao B, Szilagyi Z, Péron C, Gustafson MA, Khan K, La Morgia C, Barboni P, Carbonelli M, Valentino ML, Liguori R, Shashi V, Sullivan JA, Nagaraj S, El-Dairi M, Iannaccone A, Cutcutache I, Bertini E, Carrozzo R, Emma F, Diomedi-Camassei F, Zanna C, Armstrong M, Page MJ, Boesch S, Wortmann SB, Kopajtich R, Stong N, Sperl W, Davis E, Copeland WC, Seri M, Falkenberg M, Prokisch H, Katsanis N, Tiranti V, Pippucci T, Carelli V.

Details
20. September 2019 (MitoNet)
Redox-Dependent Loss of Flavin by Mitochondrial Complex I in Brain Ischemia/Reperfusion Injury

Antioxid Redox Signal. 2019 Sep 20. [Epub ahead of print] >>PubMed-Link<<

Anna Stepanova, Sergey Sosunov, Zoya Niatsetskaya, Csaba Konrad, Anatoly A Starkov, Giovanni Manfredi, Ilka Wittig, Vadim Ten, Alexander Galkin
1. Mai 2019 (MitoNet)
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases

Hum Mutat. 2019 May. >>PubMed-Link<<

Rebecca D Ganetzky, Claudia Stendel, Elizabeth M McCormick, Zarazuela Zolkipli-Cunningham, Amy C Goldstein, Thomas Klopstock, Marni J Falk
1. März 2019 (MitoNet)
Charles Bonnet syndrome in Leber’s hereditary optic neuropathy

J Neurol. 2019 Mar. >>PubMed-Link<<

Hana Kolarova, Claudia B Catarino, Claudia Priglinger, Thomas Klopstock
1. Januar 2019 (MitoNet)
Phenotype of carnitine palmitoyltransferase II (CPT II) deficiency: A questionnaire-based survey

J Clin Neurosci. 2019 Jan;59:32-36 >>PubMed-Link<<

Joshi PR, Deschauer M, Zierz S
1. November 2017 (MitoNet)
LYRM7 – associated complex III deficiency: A clinical, molecular genetic, MR tomographic, and biochemical study

Mitochondrion. 2017 Nov. [Epub ahead of print]

Hempel M, Kremer LS, Tsiakas K, Alhaddad B, Haack TB, Löbel U, Feichtinger RG, Sperl W, Prokisch H, Mayr JA, Santer R.
1. Juli 2017 (MitoNet)
Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics

Mol Genet Metab. 2017 Jul. [Epub ahead of print]
Herebian D, Seibt A, Smits SH, Bünning G, Freyer C, Prokisch H, Karall D, Wredenberg A, Wedell A, López LC, Mayatepek E, Distelmaier F.
14. Februar 2017 (MitoNet)
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency

Neuromuscul Disord. 2017 Feb 14. pii: S0960-8966(16)30821-5. doi: 10.1016/j.nmd.2017.02.005. [Epub ahead of print] Schrank B, Schoser B, Klopstock T, Schneiderat P, Horvath R, Abicht A, Holinski-Feder E, Augustis S
1. Februar 2017 (MitoNet)
Treatable mitochondrial diseases: cofactor metabolism and beyond

Brain. 2017 Feb. [Epub ahead of print]
Distelmaier F, Haack TB, Wortmann SB, Mayr JA, Prokisch H.
1. Februar 2017 (MitoNet)
Neonatal encephalocardiomyopathy caused by mutations in VARS2

Metab Brain Dis. 2017 Feb. [Epub ahead of print]

Baertling F, Alhaddad B, Seibt A, Budaeus S, Meitinger T, Strom TM, Mayatepek E, Schaper J, Prokisch H, Haack TB, Distelmaier F.
26. Januar 2017 (MitoNet)
Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability

Am J Hum Genet. 2017 Feb 2;100(2):257-266. doi: 10.1016/j.ajhg.2017.01.002. Epub 2017 Jan 26
Anikster Y, Haack TB, Vilboux T, Pode-Shakked B, Thöny B, Shen N, Guarani V, Meissner T, Mayatepek E, Trefz FK, Marek-Yagel D, Martinez A, Huttlin EL, Paulo JA, Berutti R, Benoist JF, Imbard A, Dorboz I, Heimer G, Landau Y, Ziv-Strasser L, Malicdan MC, Gemperle-Britschgi C, Cremer K, Engels H, Meili D, Keller I, Bruggmann R, Strom TM, Meitinger T, Mullikin JC, Schwartz G, Ben-Zeev B, Gahl WA, Harper JW, Blau N, Hoffmann GF, Prokisch H, Opladen T, Schiff M
26. Dezember 2016 (MitoNet)
FUS Mislocalization and Vulnerability to DNA Damage in ALS Patients Derived hiPSCs and Aging Motoneurons

Front. Cell. Neurosci., 26 December 2016 | http://doi.org.secure.sci-hub.cc/10.3389/fncel.2016.00290
Julia Higelin, Maria Demestre1, Stefan Putz, Jan P. Delling, Christian Jacob, Anne-Kathrin Lutz, Julia Bausinger, Anne-Kathrin Huber, Moritz Klingenstein, Gotthold Barbi, Günter Speit, Annemarie Huebers, Jochen H. Weishaupt, Andreas Hermann, Stefan Liebau, Albert C. Ludolph2 and Tobias M. Boeckers
30. November 2016 (MitoNet)
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition

Eur J Hum Genet. 2016 Nov 30. doi: 10.1038/ejhg.2016.165. [Epub ahead of print] Kuechler A, Czeschik JC, Graf E, Grasshoff U, Hüffmeier U, Busa T, Beck-Woedl S, Faivre L, Rivière JB, Bader I, Koch J, Reis A, Hehr U, Rittinger O, Sperl W, Haack TB, Wieland T, Engels H, Prokisch H, Strom TM, Lüdecke HJ, Wieczorek D.
25. November 2016 (MitoNet)
Mitochondrial replacement approaches: challenges for clinical implementation

Genome Med. 2016 Nov 25;8(1):126.
Klopstock T, Klopstock B, Prokisch H
1. November 2016 (MitoNet)
The many faces of paediatric mitochondrial disease on neuroimaging

Childs Nerv Syst. 2016 Nov. [Epub ahead of print]

Baertling F, Klee D, Haack TB, Prokisch H, Meitinger T, Mayatepek E, Schaper J, Distelmaier F.
19. Oktober 2016 (MitoNet)
Peripheral neuropathy in patients with CPEO associated with single and multiple mtDNA deletions

Neurol. Genet. 2016 Oct;2(6):e113 >>PubMed-Link<<

Lehmann D, Kornhuber ME, Clajus C, Alston CL, Wienke A, Deschauer M, Taylor RW, Zierz S
6. Oktober 2016 (MitoNet)
Characterization of a Leber’s hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G>A and m.14484T>C of the mitochondrial DNA

Mitochondrion. 2016 Oct 6. pii: S1567-7249(16)30205-7. doi: 10.1016/j.mito.2016.10.002. [Epub ahead of print] Catarino CB, Ahting U, Gusic M, Iuso A, Repp B, Peters K, Biskup S, von Livonius B, Prokisch H, Klopstock T.
6. Oktober 2016 (MitoNet)
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

Am J Hum Genet. 2016 Oct 6. [Epub ahead of print]

Kremer LS, Danhauser K, Herebian D, Petkovic Ramadža D, Piekutowska-Abramczuk D, Seibt A, Müller-Felber W, Haack TB, Płoski R, Lohmeier K, Schneider D, Klee D, Rokicki D, Mayatepek E, Strom TM, Meitinger T, Klopstock T, Pronicka E, Mayr JA, Baric I, Distelmaier F, Prokisch H.
1. September 2016 (MitoNet)
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy

The American Journal of Human Genetics 99, 16 Sept 01
Tobias B. Haack, Erika Ignatius, Javier Calvo-Garrido, Arcangela Iuso, Pirjo Isohanni, Camilla Maffezzini, Tuula Lönnqvist, Anu Suomalainen, Matteo Gorza, Laura S. Kremer, Elisabeth Graf, Monika Hartig, Riccardo Berutti, Martin Paucar, Per Svenningsson, Henrik Stranneheim, Göran
Brandberg, Anna Wedell, Manju A. Kurian, Susan A. Hayflick, Paola Venco, Valeria Tiranti, Tim M. Strom, Martin Dichgans, Rita Horvath, Elke Holinski-Feder, Christoph Freyer, Thomas Meitinger, Holger Prokisch, Jan Senderek, Anna Wredenberg, Christopher J. Carroll, and Thomas Klopstock

Details
1. September 2016 (MitoNet)
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2

Am J Hum Genet. 2016 Sep 1. [Epub ahead of print]

Kennedy H, Haack TB, Hartill V, Mataković L, Baumgartner ER, Potter H, Mackay R, Alston CL, O’Sullivan S, McFarland R, Connolly G, Gannon C, King R, Mead S, Crozier I, Chan W, Florkowski CM, Sage M, Höfken T, Alhaddad B, Kremer LS, Kopajtich R, Feichtinger RG, Sperl W, Rodenburg RJ, Minet JC, Dobbie A, Strom TM, Meitinger T, George PM, Johnson CA, Taylor RW, Prokisch H, Doudney K, Mayr JA.
1. September 2016 (MitoNet)
A recurrent mitochondrial p.Trp22Arg NDUFB3 variant causes a distinctive facial appearance, short stature and a mild biochemical and clinical phenotype

J Med Genet. 2016 Sep. [Epub ahead of print]

Alston CL, Howard C, Oláhová M, Hardy SA, He L, Murray PG, O’Sullivan S, Doherty G, Shield JP, Hargreaves IP, Monavari AA, Knerr I, McCarthy P, Morris AA, Thorburn DR, Prokisch H, Clayton PE, McFarland R, Hughes J, Crushell E, Taylor RW.
18. August 2016 (MitoNet)
Mitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain Function

Mol Cell. 2016 Aug 18. [Epub ahead of print]

Floyd BJ, Wilkerson EM, Veling MT, Minogue CE, Xia C, Beebe ET, Wrobel RL, Cho H, Kremer LS, Alston CL, Gromek KA, Dolan BK, Ulbrich A, Stefely JA, Bohl SL, Werner KM, Jochem A, Westphall MS, Rensvold JW, Taylor RW, Prokisch H, Kim JP, Coon JJ, Pagliarini DJ.
1. August 2016 (MitoNet)
Severe respiratory complex III defect prevents liver adaptation to prolonged fasting.

J Hepatol. 2016 Aug. [Epub ahead of print]
Kremer LS, L’hermitte-Stead C, Lesimple P, Gilleron M, Filaut S, Jardel C, Haack TB, Strom TM, Meitinger T, Azzouz H, Tebib N, Ogier de Baulny H, Touati G, Prokisch H, Lombès A.
1. August 2016 (MitoNet)
High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood

Eur J Hum Genet. 2016 Aug. [Epub ahead of print]

Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A.
7. Juli 2016 (MitoNet)
Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

Am J Hum Genet. 2016 Jul 07 [Epub ahead of print]
Alston CL, Compton AG, Formosa LE, Strecker V, Oláhová M, Haack TB, Smet J, Stouffs K, Diakumis P, Ciara E, Cassiman D, Romain N, Yarham J, He L, De Paepe B, Vanlander AV, Seneca S, Feichtinger RG, Płoski R, Rokicki D, Pronicka E, Haller RG, Van Hove JL, Bahlo M, Mayr JA, Van Coster R, Prokisch H, Wittig I, Ryan M, Thorburn DR, Taylor RW
30. Juni 2016 (MitoNet)
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3

Nat Commun. 2016 Jun 30.

Van Haute L, Dietmann S, Kremer L, Hussain S, Pearce SF, Powell CA, Rorbach J, Lantaff R, Blanco S, Sauer S, Kotzaeridou U, Hoffmann GF, Memari Y, Kolb-Kokocinski A, Durbin R, Mayr JA, Frye M, Prokisch H, Minczuk M.
1. Juni 2016 (MitoNet)
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum

Metab Brain Dis. 2016 Jun. [Epub ahead of print]
Danhauser K, Haack TB, Alhaddad B, Melcher M, Seibt A, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
1. Mai 2016 (MitoNet)
Expanded phenotypic spectrum of the m.8344A>G „MERRF“ mutation: data from the German mitoNET registry

J Neurol. 2016 May. [Epub ahead of print]

Altmann J, Büchner B, Nadaj-Pakleza A, Schäfer J, Jackson S, Lehmann D, Deschauer M, Kopajtich R, Lautenschläger R, Kuhn KA, Karle K, Schöls L, Schulz JB, Weis J, Prokisch H, Kornblum C, Claeys KG, Klopstock T.
1. März 2016 (MitoNet)
Life span extension by targeting a link between metabolism and histone acetylation in Drosophila

EMBO Rep. 2016 Mar
Peleg S, Feller C, Forne I, Schiller E, Sévin DC, Schauer T, Regnard C, Straub T, Prestel M, Klima C, Schmitt Nogueira M, Becker L, Klopstock T, Sauer U, Becker PB, Imhof A, Ladurner AG.
4. Februar 2016 (MitoNet)
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

Am J Hum Genet. 2016 Feb 4. [Epub ahead of print]
Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, Mühlhausen C, Kovacs-Nagy R, Satanovskij R, Graf E, Berutti R, Eckstein G, Durbin R, Sauer S, Hoffmann GF, Strom TM, Santer R, Meitinger T, Klopstock T, Prokisch H, Haack TB.
1. Februar 2016 (MitoNet)
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

Brain. 2016 Feb. [Epub ahead of print]

Holzerova E, Danhauser K, Haack TB, Kremer LS, Melcher M, Ingold I, Kobayashi S, Terrile C, Wolf P, Schaper J, Mayatepek E, Baertling F, Friedmann Angeli JP, Conrad M, Strom TM, Meitinger T, Prokisch H, Distelmaier F.
1. Januar 2016 (MitoNet)
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts

J Inherit Metab Dis. 2016 Jan. [Epub ahead of print]
Staufner C, Haack TB, Köpke MG, Straub BK, Kölker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Lenz D, Kühr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Ozolek JA, Zschocke J, Kuster A, Dick A, Das AM, Wieland T, Terrile C, Strom TM, Meitinger T, Prokisch H, Hoffmann GF.
1. Dezember 2015 (MitoNet)
Pathogenic mitochondrial mt-tRNAAla variants are uniquely associated with isolated myopathy

Eur. J. Hum. Genet. 2015 Dec;23(12),1735-8 >>PubMed-Link<<

Lehmann D, Schubert K, Joshi PR, Hardy S, Tuppen HAL, Baty K, Blakely EL, Bamberg C, Zierz S, Deschauer M, Taylor RW
15. Juli 2015 (MitoNet)
TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

Am J Hum Genet. 2015 Jul 15. pii: S0002-9297(15)00247-5. doi: 10.1016/j.ajhg.2015.06.011. [Epub ahead of print]
Powell CA, Kopajtich R, D’Souza AR, Rorbach J, Kremer LS, Husain RA, Dallabona C, Donnini C, Alston CL, Griffin H, Pyle A, Chinnery PF, Strom TM, Meitinger T, Rodenburg RJ, Schottmann G, Schuelke M, Romain N, Haller RG, Ferrero I, Haack TB, Taylor RW, Prokisch H, Minczuk M.
17. Juni 2015 (MitoNet)
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

Eur J Hum Genet. 2015 Jun 17. doi: 10.1038/ejhg.2015.133. [Epub ahead of print]
Danhauser K, Herebian D, Haack TB, Rodenburg RJ, Strom TM, Meitinger T, Klee D, Mayatepek E, Prokisch H, Distelmaier F.
9. Juni 2015 (MitoNet)
Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

Am J Hum Genet. 2015 Jun 9. pii: S0002-9297(15)00195-0. doi: 10.1016/j.ajhg.2015.05.009. [Epub ahead of print]
Haack TB, Staufner C, Kopke MG, Straub BK, Kolker S, Thiel C, Freisinger P, Baric I, McKiernan PJ, Dikow N, Harting I, Beisse F, Burgard P, Kotzaeridou U, Kuhr J, Himbert U, Taylor RW, Distelmaier F, Vockley J, Ghaloul-Gonzalez L, Zschocke J, Kremer LS, Graf E, Schwarzmayr T, Bader DM, Gagneur J, Wieland T, Terrile C, Strom TM, Meitinger T, Hoffmann GF, Prokisch H.
1. Juni 2015 (MitoNet)
Complex I assembly function and fatty acid oxidation enzyme activity of ACAD9 both contribute to disease severity in ACAD9 deficiency

Hum Mol Genet. 2015 Jun 1;24(11):3238-47. doi: 10.1093/hmg/ddv074. Epub 2015 Feb 26.

Schiff M, Haberberger B, Xia C, Mohsen AW, Goetzman ES, Wang Y, Uppala R, Zhang Y, Karunanidhi A, Prabhu D, Alharbi H, Prochownik EV, Haack T, Haberle J, Munnich A, Rotig A, Taylor RW, Nicholls RD, Kim JJ, Prokisch H, Vockley J.
1. Mai 2015 (MitoNet)
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

Ann Clin Transl Neurol. 2015 May;2(5):492-509.

Haack TB, Jackson CB, Murayama K, Kremer LS, Schaller A, Kotzaeridou U, de Vries MC, Schottmann G, Santra S, Büchner B, Wieland T, Graf E, Freisinger P, Eggimann S, Ohtake A, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Sauer S, Memari Y, Kolb-Kokocinski A, Durbin R, Hasselmann O, Cremer K, Albrecht B, Wieczorek D, Engels H, Hahn D, Zink AM, Alston CL, Taylor RW, Rodenburg RJ, Trollmann R, Sperl W, Strom TM, Hoffmann GF, Mayr JA, Meitinger T, Bolognini R, Schuelke M, Nuoffer JM, Kolker S, Prokisch H, Klopstock T.
15. April 2015 (MitoNet)
MTO1 mediates tissue specificity of OXPHOS defects via tRNA modification and translation optimization, which can be bypassed by dietary intervention

Hum Mol Genet. 2015 Apr 15;24(8):2247-66. doi: 10.1093/hmg/ddu743. Epub 2014 Dec 30.

Tischner C, Hofer A, Wulff V, Stepek J, Dumitru I, Becker L, Haack T, Kremer L, Datta AN, Sperl W, Floss T, Wurst W, Chrzanowska-Lightowlers Z, De Angelis MH, Klopstock T, Prokisch H, Wenz T.
14. April 2015 (MitoNet)
Clinical, morphological, biochemical, imaging and outcome parameters in 21 individuals with mitochondrial maintenance defect related to FBXL4 mutations

J Inherit Metab Dis. 2015 Apr 14. [Epub ahead of print]
Huemer M, Karall D, Schossig A, Abdenur JE, Al Jasmi F, Biagosch C, Distelmaier F, Freisinger P, Graham BH, Haack TB, Hauser N, Hertecant J, Ebrahimi-Fakhari D, Konstantopoulou V, Leydiker K, Lourenco CM, Scholl-Burgi S, Wilichowski E, Wolf NI, Wortmann SB, Taylor RW, Mayr JA, Bonnen PE, Sperl W, Prokisch H, McFarland R.
13. April 2015 (MitoNet)
Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

Front Genet 2015 Apr;6:123. doi: 10.3389/fgene.2015.00123. eCollection 2015.

Ahting U, Mayr JA, Vanlander AV, Hardy SA, Santra S, Makowski C, Alston CL, Zimmermann FA, Abela L, Plecko B, Rohrbach M, Spranger S, Seneca S, Rolinski B, Hagendorff A, Hempel M, Sperl W, Meitinger T, Smet J, Taylor RW, Van Coster R, Freisinger P, Prokisch H, Haack TB.
2. April 2015 (MitoNet)
Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype

Orphanet J Rare Dis. 2015 Apr 2;10:40. doi: 10.1186/s13023-015-0254-5.

Koch J, Freisinger P, Feichtinger RG, Zimmermann FA, Rauscher C, Wagentristl HP, Konstantopoulou V, Seidl R, Haack TB, Prokisch H, Ahting U, Sperl W, Mayr JA, Maier EM.
24. März 2015 (MitoNet)
MRPL44 mutations cause a slowly progressive multisystem disease with childhood-onset hypertrophic cardiomyopathy

Neurogenetics. 2015 Mar 24. [Epub ahead of print]
Distelmaier F, Haack TB, Catarino CB, Gallenmuller C, Rodenburg RJ, Strom TM, Baertling F, Meitinger T, Mayatepek E, Prokisch H, Klopstock T.
10. Februar 2015 (MitoNet)
MRPS22 mutation causes fatal neonatal lactic acidosis with brain and heart abnormalities

Neurogenetics. 2015 Feb. [Epub ahead of print]
Baertling F, Haack TB, Rodenburg RJ, Schaper J, Seibt A, Strom TM, Meitinger T, Mayatepek E, Hadzik B, Selcan G, Prokisch H, Distelmaier F.
5. Februar 2015 (MitoNet)
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency

Am J Hum Genet. 2015 Feb 5

Brea-Calvo G, Haack TB, Karall D, Ohtake A, Invernizzi F, Carrozzo R, Kremer L, Dusi S, Fauth C, Scholl-Bürgi S, Graf E, Ahting U, Resta N, Laforgia N, Verrigni D, Okazaki Y, Kohda M, Martinelli D, Freisinger P, Strom TM, Meitinger T, Lamperti C, Lacson A, Navas P, Mayr JA, Bertini E, Murayama K, Zeviani M, Prokisch H, Ghezzi D
15. Januar 2015 (MitoNet)
CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

Am J Hum Genet. 2015 Feb 5;96(2):245-57. doi: 10.1016/j.ajhg.2014.12.013. Epub 2015 Jan 15

Wortmann SB, Ziętkiewicz S, Kousi M, Szklarczyk R, Haack TB, Gersting SW, Muntau AC, Rakovic A, Renkema GH, Rodenburg RJ, Strom TM, Meitinger T, Rubio-Gozalbo ME, Chrusciel E, Distelmaier F, Golzio C, Jansen JH, van Karnebeek C, Lillquist Y, Lücke T, Õunap K, Zordania R, Yaplito-Lee J, van Bokhoven H, Spelbrink JN, Vaz FM, Pras-Raves M, Ploski R, Pronicka E, Klein C, Willemsen MA, de Brouwer AP, Prokisch H, Katsanis N, Wevers RA.
1. Januar 2015 (MitoNet)
novel m.7539C>T point mutation in the mt-tRNAAspgene associated with multisystemic mitochondrial disease

Neuromuscul. Disord. 2015 Jan;25(1):81-4 >>PubMed-Link<<

Lehmann D, Schubert K, Joshi PR, Baty K, Blakely EL, Zierz S, Taylor RW, Deschauer M
15. Dezember 2014 (MitoNet)
MTO1-deficient mouse model mirrors the human phenotype showing complex I defect and cardiomyopathy

PLoS One. 2014 Dec 15;9(12):e114918. doi: 10.1371/journal.pone.0114918. eCollection 2014.

Becker L, Kling E, Schiller E, Zeh R, Schrewe A, Holter SM, Mossbrugger I, Calzada-Wack J, Strecker V, Wittig I, Dumitru I, Wenz T, Bender A, Aichler M, Janik D, Neff F, Walch A, Quintanilla-Fend L, Floss T, Bekeredjian R, Gailus-Durner V, Fuchs H, Wurst W, Meitinger T, Prokisch H, de Angelis MH, Klopstock T.
4. Dezember 2014 (MitoNet)
Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Am J Hum Genet. 2014 Dec 4;95(6):708-20

Kopajtich R, Nicholls TJ, Rorbach J, Metodiev MD, Freisinger P, Mandel H, Vanlander A, Ghezzi D, Carrozzo R, Taylor RW, Marquard K, Murayama K, Wieland T, Schwarzmayr T, Mayr JA, Pearce SF, Powell CA, Saada A, Ohtake A, Invernizzi F, Lamantea E, Sommerville EW, Pyle A, Chinnery PF, Crushell E, Okazaki Y, Kohda M, Kishita Y, Tokuzawa Y, Assouline Z, Rio M, Feillet F, Mousson de Camaret B, Chretien D, Munnich A, Menten B, Sante T, Smet J, Régal L, Lorber A, Khoury A, Zeviani M, Strom TM, Meitinger T, Bertini ES, Van Coster R, Klopstock T, Rötig A, Haack TB, Minczuk M, Prokisch H.

Details
20. November 2014 (MitoNet)
Post-translational modification of mitochondria as a novel mode of regulation

Exp Gerontol 2014

Hofer A, Wenz T.
20. November 2014 (MitoNet)
Mitochondrial abnormalities in myofibrillar myopathies

Clin Neuropathol 2014; 33:134-142

Joshi PR, Hauburger A, Kley R, Claeys KG, Schneider I, Kress W, Stoltenburg G, Weis J, Vorgerd M, Deschauer M, Hanisch F.
23. Oktober 2014 (MitoNet)
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

Orphanet J Rare Dis. 2014 Oct 23;9:158

Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman MA, Korsten A, De Coo IF, Chinnery PF, Klopstock T.
23. Oktober 2014 (MitoNet)
Leber’s hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients

Orphanet J Rare Dis. 2014 Oct 23;9(1):158. [Epub ahead of print]

Dimitriadis K, Leonhardt M, Yu-Wai-Man P, Kirkman M, Korsten A, De Coo IF, Chinnery P, Klopstock T.
8. Oktober 2014 (MitoNet)
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Eur J Hum Genet. 2014 Oct 8. doi: 10.1038/ejhg.2014.214. [Epub ahead of print]
Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW.
8. Oktober 2014 (MitoNet)
A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Eur J Hum Genet. 2014 Oct 8. doi: 10.1038/ejhg.2014.214. [Epub ahead of print]
Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW
18. September 2014 (MitoNet)
Glucose substit. prolongs maintenance of energy homeostasis and lifespan of telomere dysfunctional mice

Nat Commun 2014; 5:4924

Missios P, Zhou Y, Guachalla LM, von Figura G, Wegner A, Chakkarappan SR, Binz T, Gompf A, Hartleben G, Burkhalter MD, Wulff V, Gunes C, Sattler RW, Song Z, Illig T, Klaus S, Bohm BO, Wenz T, Hiller K, Rudolph KL.
12. September 2014 (MitoNet)
The ubiquitin-selective chaperone Cdc48/p97 associates with Ubx3 to modulate monoubiquitylation of histone H2B

Nucleic Acids Res 2014; 42:10975-10986

Bonizec M, Herissant L, Pokrzywa W, Geng F, Wenzel S, Howard GC, Rodriguez P, Krause S, Tansey WP, Hoppe T, Dargemont C.
5. September 2014 (MitoNet)
Rare mutations in SQSTM1 modify susceptibility to frontotemporal lobar degeneration

Acta Neuropathol. 2014 Sep;128(3):397-410. doi: 10.1007/s00401-014-1298-7. Epub 2014 Jun 5.

van der Zee J, Van Langenhove T, Kovacs GG, Dillen L, Deschamps W, Engelborghs S, Matej R, Vandenbulcke M, Sieben A, Dermaut B, Smets K, Van Damme P, Merlin C, Laureys A, Van Den Broeck M, Mattheijssens M, Peeters K, Benussi L, Binetti G, Ghidoni R, Borroni B, Padovani A, Archetti S, Pastor P, Razquin C, Ortega-Cubero S, Hernandez I, Boada M, Ruiz A, de Mendonca A, Miltenberger-Miltenyi G, do Couto FS, Sorbi S, Nacmias B, Bagnoli S, Graff C, Chiang HH, Thonberg H, Perneczky R, Diehl-Schmid J, Alexopoulos P, Frisoni GB, Bonvicini C, Synofzik M, Maetzler W, vom Hagen JM, Schols L, Haack TB, Strom TM, Prokisch H, Dols-Icardo O, Clarimon J, Lleo A, Santana I, Almeida MR, Santiago B, Heneka MT, Jessen F, Ramirez A, Sanchez-Valle R, Llado A, Gelpi E, Sarafov S, Tournev I, Jordanova A, Parobkova E, Fabrizi GM, Testi S, Salmon E, Strobel T, Santens P, Robberecht W, De Jonghe P, Martin JJ, Cras P, Vandenberghe R, De Deyn PP, Cruts M, Sleegers K, Van Broeckhoven C.
4. September 2014 (MitoNet)
Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency

Am J Hum Genet 2014; 95:315-325

Melchionda L, Haack TB, Hardy S, Abbink TE, Fernandez-Vizarra E, Lamantea E, Marchet S, Morandi L, Moggio M, Carrozzo R, Torraco A, Diodato D, Strom TM, Meitinger T, Tekturk P, Yapici Z, Al-Murshedi F, Stevens R, Rodenburg RJ, Lamperti C, Ardissone A, Moroni I, Uziel G, Prokisch H, Taylor RW, Bertini E, van der Knaap MS, Ghezzi D, Zeviani M.
20. August 2014 (MitoNet)
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients

Orphanet J Rare Dis. 2014 Aug 20;9:119. doi: 10.1186/s13023-014-0119-3

Haghighi A, Haack TB, Atiq M, Mottaghi H, Haghighi-Kakhki H, Bashir RA, Ahting U, Feichtinger RG, Mayr JA, Rötig A, Lebre AS, Klopstock T, Dworschak A, Pulido N, Saeed MA, Saleh-Gohari N, Holzerova E, Chinnery PF, Taylor RW, Prokisch H.
1. August 2014 (MitoNet)
Mitochondrial protein acetylation mediates nutrient sensing of mitochondrial protein synthesis and mitonuclear protein balance

IUBMB Life 2014

Di Domenico A, Hofer A, Tundo F, Wenz T.
1. Juni 2014 (MitoNet)
ND3, ND1 and 39kDa subunits are more exposed in the de-active form of bovine mitochondrial complex I.

Biochim Biophys Acta. 2014;1837(6):929-39.

Babot M, Labarbuta P, Birch A, Kee S, Fuszard M, Botting CH, Wittig I, Heide H, Galkin A.
30. Mai 2014 (MitoNet)
Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

Brain. 2014 Sep;137(Pt 9):e295. doi: 10.1093/brain/awu128. Epub 2014 May 30

Haack TB, Klee D, Strom TM, Mayatepek E, Meitinger T, Prokisch H, Distelmaier F.
14. Mai 2014 (MitoNet)
VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies.

Hum Mutat. 2014.

Diodato D, Melchionda L, Haack T, Dallabona C, Baruffini E, Donnini C, Granata T, Ragona F, Balestri P, Margollicci M, Lamantea E, Nasca A, Powell CA, Minczuk M, Strom TM, Meitinger T, Prokisch H, Lamperti C, Zeviani M, Ghezzi D.
7. Mai 2014 (MitoNet)
Novel (ovario) leukodystrophy related to AARS2 mutations.

Neurology. 2014.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS.
1. Mai 2014 (MitoNet)
Defining the action spectrum of potential PGC-1alpha activators on a mitochondrial and cellular level in vivo.

Hum Mol Genet. 2014 May 1;23(9):2400-15.

Hofer A, Noe N, Tischner C, Kladt N, Lellek V, Schauss A, Wenz T.
17. April 2014 (MitoNet)
Common and Novel TMEM70 Mutations in a Cohort of Italian Patients with Mitochondrial Encephalocardiomyopathy.

JIMD Rep. 2014 Apr 17. [Epub ahead of print]
Diodato D, Invernizzi F, Lamantea E, Fagiolari G, Parini R, Menni F, Parenti G, Bollani L, Pasquini E, Donati MA, Cassandrini D, Santorelli FM, Haack TB, Prokisch H, Ghezzi D, Lamperti C, Zeviani M.
1. April 2014 (MitoNet)
MutationTaster2: mutation prediction for the deep-sequencing age.

Nat Methods. 2014;11(4):361-2.

Schwarz JM, Cooper DN, Schuelke M, Seelow D.

Details
1. März 2014 (MitoNet)
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency.

J Med Genet.2014 Mar;51(3):170-5.

Jackson CB, Nuoffer JM, Hahn D, Prokisch H, Haberberger B, Gautschi M, Haberli A, Gallati S, Schaller A.
1. März 2014 (MitoNet)
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening.

Mol Genet Metab. 2014;111(3):342-52.

Haack TB, Gorza M, Danhauser K, Mayr JA, Haberberger B, Wieland T, Kremer L, Strecker V, Graf E, Memari Y, Ahting U, Kopajtich R, Wortmann SB, Rodenburg RJ, Kotzaeridou U, Hoffmann GF, Sperl W, Wittig I, Wilichowski E, Schottmann G, Schuelke M, Plecko B, Stephani U, Strom TM, Meitinger T, Prokisch H, Freisinger P.
1. März 2014 (MitoNet)
Leber’s Hereditary Optic Neuropathy – Phenotype, Genetics, Therapeutic Options

Klin Monbl Augenheilkd. 2014;231(3):216-21.

Gallenmüller C,Klopstock T
1. März 2014 (MitoNet)
Mitochondrial membrane assembly of TMEM70 protein.

Mitochondrion. 2014 Mar;15:1-9

Kratochvilova H, Hejzlarova K, Vrbacky M, Mracek T, Karbanova V, Tesarova M, Gombitova A, Cmarko D, Wittig I, Zeman J, Houstek J.
1. Januar 2014 (MitoNet)
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation.

Journal of neurology. 2013.

Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.
1. Januar 2014 (MitoNet)
Recessive dystonia-ataxia syndrome in a Turkish family caused by a COX20 (FAM36A) mutation

J Neurol. 2014 Jan;261(1):207-12. doi: 10.1007/s00415-013-7177-7. Epub 2013 Nov 8.

Doss S, Lohmann K, Seibler P, Arns B, Klopstock T, Zuhlke C, Freimann K, Winkler S, Lohnau T, Drungowski M, Nurnberg P, Wiegers K, Lohmann E, Naz S, Kasten M, Bohner G, Ramirez A, Endres M, Klein C.
1. Januar 2014 (MitoNet)
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum.

Brain. 2014 Jan;137(Pt 1):69-77.

Synofzik M, Gonzalez MA, Lourenco CM, Coutelier M, Haack TB, Rebelo A, Hannequin D, Strom TM, Prokisch H, Kernstock C, Durr A, Schöls L, Lima-Martinez MM, Farooq A, Schule R, Stevanin G, Marques W, Jr., Zuchner S.
15. Dezember 2013 (MitoNet)
Loss of mitochondrial peptidase Clpp leads to infertility, hearing loss plus growth retardation via accumulation of CLPX, mtDNA and inflammatory factors.

Hum Mol Genet. 2013 Dec 15;22(24):4871-87

Gispert S, Parganlija D, Klinkenberg M, Drose S, Wittig I, Mittelbronn M, Grzmil P, Koob S, Hamann A, Walter M, Buchel F, Adler T, Hrabe de Angelis M, Busch DH, Zell A, Reichert AS, Brandt U, Osiewacz HD, Jendrach M, Auburger G.
2. Dezember 2013 (MitoNet)
ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption.

J Clin Invest. 2013 Dec 2;123(12):5179-89. Ashraf S, Gee HY, Woerner S, Xie LX, Vega-Warner V, Lovric S, Fang H, Song X, Cattran DC, Avila-Casado C, Paterson AD, Nitschke P, Bole-Feysot C, Cochat P, Esteve-Rudd J, Haberberger B, Allen SJ, Zhou W, Airik R, Otto EA, Barua M, Al-Hamed MH, Kari JA, Evans J, Bierzynska A, Saleem MA, Bockenhauer D, Kleta R, El Desoky S, Hacihamdioglu DO, Gok F, Washburn J, Wiggins RC, Choi M, Lifton RP, Levy S, Han Z, Salviati L, Prokisch H, Williams DS, Pollak M, Clarke CF, Pei Y, Antignac C, Hildebrandt F.
1. Dezember 2013 (MitoNet)
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.

J Med Genet. 2013 Dec;50(12):848-58.

Grau T, Burbulla LF, Engl G, Delettre C, Delprat B, Oexle K, Leo-Kottler B, Roscioli T, Kruger R, Rapaport D, Wissinger B, Schimpf-Linzenbold S.
7. November 2013 (MitoNet)
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

American journal of human genetics. 2013;93(5):906-14.

Hildick-Smith GJ, Cooney JD, Garone C, Kremer LS, Haack TB, Thon JN, Miyata N, Lieber DS, Calvo SE, Akman HO, Yien YY, Huston NC, Branco DS, Shah DI, Freedman ML, Koehler CM, Italiano JE, Jr., Merkenschlager A, Beblo S, Strom TM, Meitinger T, Freisinger P, Donati MA, Prokisch H, Mootha VK, DiMauro S, Paw BH.
1. November 2013 (MitoNet)
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.

Human mutation. 2013;34(11):1501-9.

Baruffini E, Dallabona C, Invernizzi F, Yarham JW, Melchionda L, Blakely EL, Lamantea E, Donnini C, Santra S, Vijayaraghavan S, Roper HP, Burlina A, Kopajtich R, Walther A, Strom TM, Haack TB, Prokisch H, Taylor RW, Ferrero I, Zeviani M, Ghezzi D.
8. Oktober 2013 (MitoNet)
Age-related changes in the mitochondrial proteome of the fungus Podospora anserina analyzed by 2D-DIGE and LC-MS/MS.

J Proteomics. 2013 Oct 8;91:358-74.

Chimi MA, Drose S, Wittig I, Heide H, Steger M, Werner A, Hamann A, Osiewacz HD, Brandt U.
1. Oktober 2013 (MitoNet)
Effects of acetyl-DL-leucine in patients with cerebellar ataxia: a case series.

Journal of neurology. 2013;260(10):2556-61.

Strupp M, Teufel J, Habs M, Feuerecker R, Muth C, van de Warrenburg BP, Klopstock T, Feil K.
1. Oktober 2013 (MitoNet)
Methods to analyse composition and dynamics of macromolecular complexes.

Biochem Soc Trans. 2013 Oct;41(5):1235-41.

Heide H, Wittig I.
5. September 2013 (MitoNet)
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.

Am J Hum Genet. 2013 Sep 5;93(3):482-95.

Gai X, Ghezzi D, Johnson MA, Biagosch CA, Shamseldin HE, Haack TB, Reyes A, Tsukikawa M, Sheldon CA, Srinivasan S, Gorza M, Kremer LS, Wieland T, Strom TM, Polyak E, Place E, Consugar M, Ostrovsky J, Vidoni S, Robinson AJ, Wong LJ, Sondheimer N, Salih MA, Al-Jishi E, Raab CP, Bean C, Furlan F, Parini R, Lamperti C, Mayr JA, Konstantopoulou V, Huemer M, Pierce EA, Meitinger T, Freisinger P, Sperl W, Prokisch H, Alkuraya FS, Falk MJ, Zeviani M.
1. August 2013 (MitoNet)
Accumulation of mitochondrial DNA deletions within dopaminergic neurons triggers neuroprotective mechanisms.

Brain. 2013 Aug;136(Pt 8):2369-78.

Perier C, Bender A, Garcia-Arumi E, Melia MJ, Bove J, Laub C, Klopstock T, Elstner M, Mounsey RB, Teismann P, Prolla T, Andreu AL, Vila M.
1. August 2013 (MitoNet)
Analysis of LMNB1 Duplications in Autosomal Dominant Leukodystrophy Provides Insights into Duplication Mechanisms and Allele-Specific Expression.

Hum Mutat. 2013.

Giorgio E, Rolyan H, Kropp L, Chakka AB, Yatsenko S, Gregorio ED, Lacerenza D, Vaula G, Talarico F, Mandich P, Toro C, Pierre EE, Labauge P, Capellari S, Cortelli P, Vairo FP, Miguel D, Stubbolo D, Marques LC, Gahl W, Boespflug-Tanguy O, Melberg A, Hassin-Baer S, Cohen OS, Pjontek R, Grau A, Klopstock T, Fogel B, Meijer I, Rouleau G, Bouchard JP, Ganapathiraju M, Vanderver A, Dahl N, Hobson G, Brusco A, Brussino A, Padiath QS.
30. Juli 2013 (MitoNet)
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy

Am J Hum Genet. 2013 Jul 9

Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H.

Details
22. Juli 2013 (MitoNet)
Flow cytometry for the analysis of alpha-dystroglycan glycosylation in fibroblasts from patients with dystroglycanopathies.

PLoS One. 2013 Jul 22;8(7):e68958.

Stevens E, Torelli S, Feng L, Phadke R, Walter MC, Schneiderat P, Eddaoudi A, Sewry CA, Muntoni F.
2. Juli 2013 (MitoNet)
New treatments for mitochondrial disease-no time to drop our standards.

Nat Rev Neurol. 2013 Jul 2. doi: 10.1038/nrneurol.2013.129.

Pfeffer G, Horvath R, Klopstock T, Mootha VK, Suomalainen A, Koene S, Hirano M, Zeviani M, Bindoff LA, Yu-Wai-Man P, Hanna M, Carelli V, McFarland R, Majamaa K, Turnbull DM, Smeitink J, Chinnery PF
1. Juni 2013 (MitoNet)
beta-Propeller protein-associated neurodegeneration: a new X-linked dominant disorder with brain iron accumulation.

Brain : a journal of neurology. 2013;136(Pt 6):1708-17.

Hayflick SJ, Kruer MC, Gregory A, Haack TB, Kurian MA, Houlden HH, Anderson J, Boddaert N, Sanford L, Harik SI, Dandu VH, Nardocci N, Zorzi G, Dunaway T, Tarnopolsky M, Skinner S, Holden KR, Frucht S, Hanspal E, Schrander-Stumpel C, Mignot C, Heron D, Saunders DE, Kaminska M, Lin JP, Lascelles K, Cuno SM, Meyer E, Garavaglia B, Bhatia K, de Silva R, Crisp S, Lunt P, Carey M, Hardy J, Meitinger T, Prokisch H, Hogarth P.
6. April 2013 (MitoNet)
Lewy body pathology is associated with mitochondrial DNA damage in Parkinson’s disease.

Neurobiol Aging. 2013 Sep;34(9):2231-3. doi: 10.1016/j.neurobiolaging.2013.03.016. Epub 2013 Apr 6.

Muller SK, Bender A, Laub C, Hogen T, Schlaudraff F, Liss B, Klopstock T, Elstner M
1. März 2013 (MitoNet)
Effects of idebenone on color vision in patients with leber hereditary optic neuropathy.

J Neuroophthalmol. 2013 Mar;33(1):30-6. doi: 10.1097/WNO.0b013e318272c643.

Rudolph G, Dimitriadis K, Buchner B, Heck S, Al-Tamami J, Seidensticker F, Rummey C, Leinonen M, Meier T, Klopstock T
1. Februar 2013 (MitoNet)
Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Acta Neuropathol. 2013 Feb;125(2):245-56.

Vielhaber S, Debska-Vielhaber G, Peeva V, Schoeler S, Kudin AP, Minin I, Schreiber S, Dengler R, Kollewe K, Zuschratter W, Kornblum C, Zsurka G, Kunz WS.
1. Februar 2013 (MitoNet)
Mitochondrial membrane protein associated neurodegenration: a novel variant of neurodegeneration with brain iron accumulation.

Movement disorders : official journal of the Movement Disorder Society. 2013;28(2):224-7.

Schulte EC, Claussen MC, Jochim A, Haack T, Hartig M, Hempel M, Prokisch H, Haun-Junger U, Winkelmann J, Hemmer B, Forschler A, Ilg R.
1. Februar 2013 (MitoNet)
Persistence of the treatment effect of idebenone in Leber’s hereditary optic neuropathy.

Brain. 2013 Feb;136(Pt 2):e230. doi: 10.1093/brain/aws279. Epub 2013 Feb 6.

Klopstock T, Metz G, Yu-Wai-Man P, Buchner B, Gallenmuller C, Bailie M, Nwali N, Griffiths PG, von Livonius B, Reznicek L, Rouleau J, Coppard N, Meier T, Chinnery PF: Brain 2013, 136:e230
13. Januar 2013 (MitoNet)
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease.

Kornblum C, Nicholls TJ, Haack TB, Schöler S, Peeva V, Danhauser K, Hallmann K, Zsurka G, Rorbach J, Iuso A, Wieland T, Sciacco M, Ronchi D, Comi GP, Moggio M, Quinzii CM, Dimauro S, Calvo SE, Mootha VK, Klopstock T, Strom TM, Meitinger T, Minczuk M, Kunz WS, Prokisch H. Nat Genet. 2013 Jan 13. doi: 10.1038/ng.2501. [Epub ahead of print]
1. Januar 2013 (MitoNet)
APOOL is a cardiolipin-binding constituent of the Mitofilin/MINOS protein complex determining cristae morphology in mammalian mitochondria.

PLoS One. 2013;8(5):e63683.

Weber TA, Koob S, Heide H, Wittig I, Head B, van der Bliek A, Brandt U, Mittelbronn M, Reichert AS.
1. Januar 2013 (MitoNet)
miR-411 is up-regulated in FSHD myoblasts and suppresses myogenic factors.

Orphanet J Rare Dis. 2013;8:55.

Harafuji N, Schneiderat P, Walter MC, Chen YW.
1. Januar 2013 (MitoNet)
Quantification of protein complexes by blue native electrophoresis.

Methods in molecular biology. 2013;1033:363-79.

Heidler J, Strecker V, Csintalan F, Bleier L, Wittig I.
1. Januar 2013 (MitoNet)
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings.

J Inherit Metab Dis. 2013 Jan;36(1):55-62

Haack TB, Rolinski B, Haberberger B, Zimmermann F, Schum J, Strecker V, Graf E, Athing U, Hoppen T, Wittig I, Sperl W, Freisinger P, Mayr JA, Strom TM, Meitinger T, Prokisch H.
1. Januar 2013 (MitoNet)
Quantitative and qualitative 2D electrophoretic analysis of differentially expressed mitochondrial proteins from five mouse organs.

Proteomics. 2013 Jan;13(1):179-95.

Techritz S, Lutzkendorf S, Bazant E, Becker S, Klose J, Schuelke M.
1. Dezember 2012 (MitoNet)
What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?

Brain. 2012 Dec;135(Pt 12):3614-26. doi: 10.1093/brain/aws298.

Neeve VC, Samuels DC, Bindoff LA, van den Bosch B, Van Goethem G, Smeets H, Lombes A, Jardel C, Hirano M, Dimauro S, De Vries M, Smeitink J, Smits BW, de Coo IF, Saft C, Klopstock T, Keiling BC, Czermin B, Abicht A, Lochmuller H, Hudson G, Gorman GG, Turnbull DM, Taylor RW, Holinski-Feder E, Chinnery PF, Horvath R:
1. April 2012 (MitoNet)
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.

J Med Genet. 2012 Apr;49(4):277-83. doi: 10.1136/jmedgenet-2012-100846.

Haack TB, Haberberger B, Frisch EM, Wieland T, Iuso A, Gorza M, Strecker V, Graf E, Mayr JA, Herberg U, Hennermann JB, Klopstock T, Kuhn KA, Ahting U, Sperl W, Wilichowski E, Hoffmann GF, Tesarova M, Hansikova H, Zeman J, Plecko B, Zeviani M, Wittig I, Strom TM, Schuelke M, Freisinger P, Meitinger T, Prokisch H:
21. Dezember 2011 (MitoNet)
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.

Mol Brain. 2011 Dec 21;4:43. doi: 10.1186/1756-6606-4-43.

Elstner M, Muller SK, Leidolt L, Laub C, Krieg L, Schlaudraff F, Liss B, Morris C, Turnbull DM, Masliah E, Prokisch H, Klopstock T, Bender Á
7. Oktober 2011 (MitoNet)
Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation

Am J Hum Genet. 2011 Oct 7;89(4):543-50. doi: 10.1016/j.ajhg.2011.09.007.

Hartig MB, Iuso A, Haack T, Kmiec T, Jurkiewicz E, Heim K, Roeber S, Tarabin V, Dusi S, Krajewska-Walasek M, Jozwiak S, Hempel M, Winkelmann J, Elstner M, Oexle K, Klopstock T, Mueller-Felber W, Gasser T, Trenkwalder C, Tiranti V, Kretzschmar H, Schmitz G, Strom TM, Meitinger T, Prokisch H
25. Juli 2011 (MitoNet)
A randomized placebocontrolled trial of idebenone in Leber’s hereditary optic neuropathy

Klopstock T, Yu-Wai-Man P, Dimitriadis K, Rouleau J, Heck S, Bailie M, Atawan
A, Chattopadhyay S, Schubert M, Garip A, Kernt M, Petraki D, Rummey C,
Leinonen M, Metz G, Griffiths PG, Meier T, Chinnery PF
Brain. 2011 Sep;134(Pt 9):2677-86. doi: 10.1093/brain/awr170. Epub 2011 Jul 25
1. Juli 2011 (MitoNet)
Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death.

Acta Neuropathol. 2011 Jul;122(1):75-86. doi: 10.1007/s00401-011-0828-9. Epub 2011 May 4.

Elstner M, Morris CM, Heim K, Bender A, Mehta D, Jaros E, Klopstock T, Meitinger T, Turnbull DM, Prokisch H:
1. Juli 2011 (MitoNet)
Whole blood genome-wide expression profiling and network analysis suggest MELAS master regulators.

Neurol Res. 2011 Jul;33(6):638-55. doi: 10.1179/1743132810Y.0000000016.

Mende S, Royer L, Herr A, Schmiedel J, Deschauer M, Klopstock T, Kostic VS, Schroeder M, Reichmann H, Storch A
1. März 2011 (MitoNet)
POLG mutations causedecreased mitochondrial DNA repopulation rates following induced depletion inhuman fibroblasts

Stewart JD, Schoeler S, Sitarz KS, Horvath R, Hallmann K, Pyle A, Yu-Wai-Man
P, Taylor RW, Samuels DC, Kunz WS, Chinnery PF. Biochim Biophys Acta 2011;1812:321-325
1. Januar 2011 (MitoNet)
Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing

Wang W, Shen P, Thiyagarajan S, Lin S, Palm C, Horvath R, Klopstock T, Cutler D, Pique L, Schrijver I, Davis RW, Mindrinos M, Speed TP, Scharfe C. Nucleic Acids Res. 2011 Jan;39(1):44-58. doi: 10.1093/nar/gkq750. Epub 2010 Sep 15.
1. Januar 2011 (MitoNet)
Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene

Gerards M, van den Bosch BJ, Danhauser K, Serre V, van Weeghel M, Wanders
RJ, Nicolaes GA, Sluiter W, Schoonderwoerd K, Scholte HR, Prokisch H, Rotig
A, de Coo IF, Smeets HJ. Brain 2011;134:210-219
1. Januar 2011 (MitoNet)
NOA1 is an essential GTPase required for mitochondrial protein synthesis

Kolanczyk M, Pech M, Zemojtel T, Yamamoto H, Mikula I, Calvaruso MA, van
den Brand M, Richter R, Fischer B, Ritz A, Kossler N, Thurisch B, Spoerle R,
Smeitink J, Kornak U, Chan D, Vingron M, Martasek P, Lightowlers RN, Nijtmans
L, Schuelke M, Nierhaus KH, Mundlos S. Mol Biol Cell 2011;22:1-11

Es gibt mindestens noch 200 unbekannte mitochondriale Erkrankungen

in: BMBF Newsletter Gesundheitsforschung, Juni 2023

Download (PDF)

Gerade bei seltenen Erkrankungen ist eine Vernetzung ideal - das mitoNET-Patientenregister

in: Themenbote Medizin, Februar 2023

Download (PDF)

Übersichtsarbeit "Mitochondriale Erkrankungen"

in: Deutsches Ärzteblatt
Klopstock T, Priglinger C, Yilmaz A, Kornblum C, Distelmaier F, Prokisch H, Ausgabe 44/2021, 5.November 2021

Weitere Informationen

Pressemitteilung: Forschungsverbund mitoNET stellt wichtige Weichen für neue Therapiemöglichkeiten bei mitochondrialen Erkrankungen (Feb. 2022)

Weitere Informationen

Vorstellung des Projekts mitoWEAR - Monitoring mittels tragbarer Aktivitätsgeräte, Juni 2021 (©Friedrich-Baur Institut, LMU Klinikum/ Julia Zibold)

Pressemitteilung des LMU Klinikums vom 10.12.2020

LHON: Verbesserung der Sehfähigkeit dank neuartiger Gentherapie

Weitere Informationen

mitoNET - Deutsches Netzwerk für mitochondriale Erkrankungen

Was sind mitochondriale Erkrankungen?

Gemeinsame Forschung im mitoNET Verbund

13. März 2024 (MitoNet) Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

28. Februar 2024 (MitoNet) Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

17. Januar 2024 (MitoNet) Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

14. November 2023 (MitoNet) Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

23. Juli 2023 (MitoNet) Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

2. Juni 2023 (MitoNet) Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial

1. Juni 2023 (MitoNet) Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

9. Mai 2023 (MitoNet) Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy

1. Mai 2023 (MitoNet) Aberrant splicing prediction across human tissues

24. Februar 2023 (MitoNet) Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis

1. Februar 2023 (MitoNet) Neuroimaging in mitochondrial disease

1. Februar 2023 (MitoNet) Clinical trials in mitochondrial diseases

5. Januar 2023 (MitoNet) Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

19. November 2022 (MitoNet) Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

1. September 2022 (MitoNet) Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

1. September 2022 (MitoNet) Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

1. September 2022 (MitoNet) Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

31. August 2022 (MitoNet) Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

18. August 2022 (MitoNet) Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

18. August 2022 (MitoNet) Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

9. August 2022 (MitoNet) Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

14. Juni 2022 (MitoNet) Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin

1. Juni 2022 (MitoNet) How many molecules of mitochondrial complex I are in a cell?

29. Mai 2022 (MitoNet) Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

1. Mai 2022 (MitoNet) Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart

5. April 2022 (MitoNet) Clinical implementation of RNA sequencing for Mendelian disease diagnostics

1. März 2022 (MitoNet) Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

21. Februar 2022 (MitoNet) Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery

18. Februar 2022 (MitoNet) A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

10. Februar 2022 (MitoNet) DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

20. Januar 2022 (MitoNet) Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

6. Januar 2022 (MitoNet) Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

1. Januar 2022 (MitoNet) Mitochondrial Retinopathy

29. November 2021 (MitoNet) Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

8. November 2021 (MitoNet) Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes

5. November 2021 (MitoNet) Mitochondriale Erkrankungen

1. November 2021 (MitoNet) Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

22. Oktober 2021 (MitoNet) Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

21. Oktober 2021 (MitoNet) Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

14. Oktober 2021 (MitoNet) Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

1. Oktober 2021 (MitoNet) Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples

1. Oktober 2021 (MitoNet) Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

1. Oktober 2021 (MitoNet) Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

1. September 2021 (MitoNet) Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies

6. August 2021 (MitoNet) Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

1. August 2021 (MitoNet) Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

26. Juli 2021 (MitoNet) A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

21. Juli 2021 (MitoNet) Complexome Profiling: Assembly and Remodeling of Protein Complexes

20. Juli 2021 (MitoNet) Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data

20. Juli 2021 (MitoNet) Natural History of Polymerase Gamma-Related Ataxia

1. Juli 2021 (MitoNet) Mitochondrial disease in adults: recent advances and future promise

1. Juli 2021 (MitoNet) CEDAR, an online resource for the reporting and exploration of complexome profiling data

2. Juni 2021 (MitoNet) Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

1. Juni 2021 (MitoNet) How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

1. Juni 2021 (MitoNet) Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes

24. Mai 2021 (MitoNet) Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

11. März 2021 (MitoNet) Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

3. März 2021 (MitoNet) De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

2. März 2021 (MitoNet) Genetic basis of mitochondrial diseases

1. März 2021 (MitoNet) Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

26. Februar 2021 (MitoNet) The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

14. Februar 2021 (MitoNet) The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

4. Februar 2021 (MitoNet) Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

22. Januar 2021 (MitoNet) Detection of aberrant splicing events in RNA-seq data using FRASER

19. Januar 2021 (MitoNet) Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

18. Januar 2021 (MitoNet) Detection of aberrant gene expression events in RNA sequencing data

12. Januar 2021 (MitoNet) Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

1. Januar 2021 (MitoNet) Mitochondrial Complexome Profiling

21. Dezember 2020 (MitoNet) Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

9. Dezember 2020 (MitoNet) Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

26. November 2020 (MitoNet) The Dimensions of Primary Mitochondrial Disorders

22. November 2020 (MitoNet) Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

1. November 2020 (MitoNet) Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

13. Oktober 2020 (MitoNet) Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

1. Oktober 2020 (MitoNet) MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes

24. September 2020 (MitoNet) Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

18. September 2020 (MitoNet) Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

13. März 2024 (MitoNet)
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant

28. Februar 2024 (MitoNet)
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial

17. Januar 2024 (MitoNet)
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy

14. November 2023 (MitoNet)
Dystonia in ATP Synthase Defects: Reconnecting Mitochondria and Dopamine

23. Juli 2023 (MitoNet)
Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction

2. Juni 2023 (MitoNet)
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy: The MMPOWER-3 Randomized Clinical Trial

1. Juni 2023 (MitoNet)
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

9. Mai 2023 (MitoNet)
Age-dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy

1. Mai 2023 (MitoNet)
Aberrant splicing prediction across human tissues

24. Februar 2023 (MitoNet)
Genetics of mitochondrial diseases: Current approaches for the molecular diagnosis

1. Februar 2023 (MitoNet)
Neuroimaging in mitochondrial disease

1. Februar 2023 (MitoNet)
Clinical trials in mitochondrial diseases

5. Januar 2023 (MitoNet)
Rare EIF4A2 variants are associated with a neurodevelopmental disorder characterized by intellectual disability, hypotonia, and epilepsy

19. November 2022 (MitoNet)
Normal Thermostability of p.Ser113Leu and p.Arg631Cys Variants of Mitochondrial Carnitine Palmitoyltransferase II (CPT II) in Human Muscle Homogenate

1. September 2022 (MitoNet)
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

1. September 2022 (MitoNet)
Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

1. September 2022 (MitoNet)
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease

31. August 2022 (MitoNet)
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

18. August 2022 (MitoNet)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

18. August 2022 (MitoNet)
Heterozygous BRCA1/2 and Mismatch Repair Gene Pathogenic Variants in Children and Adolescents with Cancer

9. August 2022 (MitoNet)
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study

14. Juni 2022 (MitoNet)
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERD ND ): Time to Move Beyond the Skin

1. Juni 2022 (MitoNet)
How many molecules of mitochondrial complex I are in a cell?

29. Mai 2022 (MitoNet)
Guidelines for clinical interpretation of variant pathogenicity using RNA phenotypes

1. Mai 2022 (MitoNet)
Redox-dependent loss of flavin by mitochondria complex I is different in brain and heart

5. April 2022 (MitoNet)
Clinical implementation of RNA sequencing for Mendelian disease diagnostics

1. März 2022 (MitoNet)
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease

21. Februar 2022 (MitoNet)
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery

18. Februar 2022 (MitoNet)
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2

10. Februar 2022 (MitoNet)
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

20. Januar 2022 (MitoNet)
Variants in Mitochondrial ATP Synthase Cause Variable Neurologic Phenotypes

6. Januar 2022 (MitoNet)
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency

1. Januar 2022 (MitoNet)
Mitochondrial Retinopathy

29. November 2021 (MitoNet)
Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

8. November 2021 (MitoNet)
Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes

5. November 2021 (MitoNet)
Mitochondriale Erkrankungen

1. November 2021 (MitoNet)
Prevalence and clinical prediction of mitochondrial disorders in a large neuropediatric cohort

22. Oktober 2021 (MitoNet)
Myopathic mitochondrial DNA depletion syndrome associated with biallelic variants in LIG3

21. Oktober 2021 (MitoNet)
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption

14. Oktober 2021 (MitoNet)
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers

1. Oktober 2021 (MitoNet)
Quantification of NADH:ubiquinone oxidoreductase (complex I) content in biological samples

1. Oktober 2021 (MitoNet)
Gene Therapies for the Treatment of Leber Hereditary Optic Neuropathy

1. Oktober 2021 (MitoNet)
Increased presence of nuclear DNAJA3 and upregulation of cytosolic STAT1 and of nucleic acid sensors trigger innate immunity in the ClpP-null mouse

1. September 2021 (MitoNet)
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies

6. August 2021 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

1. August 2021 (MitoNet)
Pathogenic variants in MRPL44 cause infantile cardiomyopathy due to a mitochondrial translation defect

26. Juli 2021 (MitoNet)
A novel cryptic splice site mutation in COL1A2 as a cause of osteogenesis imperfecta

21. Juli 2021 (MitoNet)
Complexome Profiling: Assembly and Remodeling of Protein Complexes

20. Juli 2021 (MitoNet)
Robust Huber-LASSO for improved prediction of protein, metabolite and gene expression levels relying on individual genotype data

20. Juli 2021 (MitoNet)
Natural History of Polymerase Gamma-Related Ataxia

1. Juli 2021 (MitoNet)
Mitochondrial disease in adults: recent advances and future promise

1. Juli 2021 (MitoNet)
CEDAR, an online resource for the reporting and exploration of complexome profiling data

2. Juni 2021 (MitoNet)
Aberrant activity of mitochondrial NCLX is linked to impaired synaptic transmission and is associated with mental retardation

1. Juni 2021 (MitoNet)
How Machine Learning and Statistical Models Advance Molecular Diagnostics of Rare Disorders Via Analysis of RNA Sequencing Data

1. Juni 2021 (MitoNet)
Physiological extremes of the human blood metabolome: A metabolomics analysis of highly glycolytic, oxidative, and anabolic athletes

24. Mai 2021 (MitoNet)
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison

11. März 2021 (MitoNet)
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber’s Hereditary Optic Neuropathy mutation carriers: a prospective cohort study

3. März 2021 (MitoNet)
De novo stop-loss variants in CLDN11 cause hypomyelinating leukodystrophy

2. März 2021 (MitoNet)
Genetic basis of mitochondrial diseases

1. März 2021 (MitoNet)
Plasma metabolites to profile pathways in noncommunicable disease multimorbidity

26. Februar 2021 (MitoNet)
The value of qualitative muscle MRI in the diagnostic procedures of myopathies: a biopsy-controlled study in 191 patients

14. Februar 2021 (MitoNet)
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines

4. Februar 2021 (MitoNet)
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy

22. Januar 2021 (MitoNet)
Detection of aberrant splicing events in RNA-seq data using FRASER

19. Januar 2021 (MitoNet)
Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

18. Januar 2021 (MitoNet)
Detection of aberrant gene expression events in RNA sequencing data

12. Januar 2021 (MitoNet)
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset

1. Januar 2021 (MitoNet)
Mitochondrial Complexome Profiling

21. Dezember 2020 (MitoNet)
Expanding the clinical and genetic spectrum of FDXR deficiency by functional validation of variants of uncertain significance

9. Dezember 2020 (MitoNet)
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy

26. November 2020 (MitoNet)
The Dimensions of Primary Mitochondrial Disorders

22. November 2020 (MitoNet)
Recurrent acute liver failure in alanyl-tRNA synthetase-1 (AARS1) deficiency

1. November 2020 (MitoNet)
Paroxysmal and non-paroxysmal dystonia in 3 patients with biallelic ECHS1 variants: Expanding the neurological spectrum and therapeutic approaches

13. Oktober 2020 (MitoNet)
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis

1. Oktober 2020 (MitoNet)
MIC26 and MIC27 cooperate to regulate cardiolipin levels and the landscape of OXPHOS complexes

24. September 2020 (MitoNet)
Bi-allelic pathogenic variants in NDUFC2 cause early-onset Leigh syndrome and stalled biogenesis of complex I

18. September 2020 (MitoNet)
Towards Central Nervous System Involvement in Adults with Hereditary Myopathies

25. August 2020 (MitoNet)
Mitochondrial Regulation of the 26S Proteasome

6. August 2020 (MitoNet)
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia

24. Juli 2020 (MitoNet)
The Effect of Resveratrol on Mitochondrial Function in Myoblasts of Patients with the Common m.3243A>G Mutation