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1. July 2015 (HOPE)
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
Nat Genet. 2015 Jul;47(7):757-65. Epub 2015 Jun 1
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Menendez IG, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH.
Details
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15. November 2014 (HOPE)
Peripherin-2 couples rhodopsin to the CNG channel in outer segments of rod photoreceptors
Hum Mol Genet. pii: ddu323. [Epub ahead of print Jun 24, 2014]
Becirovic E, Nguyen ON, Paparizos C, Butz ES, Stern-Schneider G, Wolfrum U, Hauck SM, Ueffing M, Wahl-Schott C, Michalakis S, Biel M (2014).
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1. October 2014 (HOPE)
Disruption of the Retinitis Pigmentosa 28 gene Fam161a in mice affects the photoreceptor ciliary machinery and leads to retinal degeneration
Hum Mol Gene. 2014 pii: ddu242. [Epub ahead of print May 15]
Karlstetter M*, Sorusch N*, Caramoy A, Dannhausen K, Scheiffert E, Mirza M, Aslanidis A, Boesl M, Stoehr H, Nagel-Wolfrum K, Tamm ER, Jägle H, Wolfrum U, and Langmann T (*equal contributions).
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30. September 2014 (HOPE)
Translational read-through as an alternative approach for ocular gene therapy of retinal dystrophies caused by in-frame nonsense mutations
Vis Neurosci. 10:1-8.
Nagel-Wolfrum K, Möller F, Penner I, and Wolfrum U (2014).
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13. September 2014 (HOPE)
Identification of a Novel Neurotrophic Factor from Primary Retinal Müller Cells Using Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)
Mol Cell Proteomics. 13(9):2371-81
von Toerne C, Menzler J, Ly A, Senninger N, Ueffing M, Hauck SM (2014)
Identification of a Novel Neurotrophic Factor from Primary Retinal Müller Cells Using Stable Isotope Labeling by Amino Acids in Cell Culture (SILAC)
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1. August 2014 (HOPE)
Phosphorylation of the Usher syndrome protein SANS controls Magi2-mediated endocytosis
Hum Mol Genet. 23(15):3923-42
Bauss K, Knapp B, Jores P, Roepman R, Kremer H, v. Wijk E, Maerker T, Wolfrum U
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1. August 2014 (HOPE)
The progressive rod-cone degeneration (PRCD) protein is secreted through the conventional ER/Golgi-dependent pathway
Exp Eye Res. 125:217-25
Remez L, Zobor D, Kohl S, Ben-Yosef T (2014)
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17. July 2014 (HOPE)
Mutation of POC1B in a Severe Syndromic Retinal Ciliopathy
Hum Mutat. 2014 Jul 17. doi: 10.1002/humu.22618. [Epub ahead of print]
Beck BB, Phillips JB, Bartram MP, Wegner J, Thoenes M, Pannes A, Sampson J, Heller R, Göbel H, Koerber F, Neugebauer A, Hedergott A, Nürnberg G, Nürnberg P, Thiele H, Altmüller J, Toliat MR, Staubach S, Boycott KM, Valente EM, Janecke AR, Eisenberger T, Bergmann C, Tebbe L, Wang Y, Wu Y, Fry AM, Westerfield M, Wolfrum U, Bolz HJ.
Details
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1. July 2014 (HOPE)
Cyr61 activates retinal cells and prolongs photoreceptor survival in rd1 mouse model of retinitis pigmentosa
Journal of Neurochemistry. 130(2):227-40
Kucharska J, Río PD, Arango-Gonzalez B, Gorza M, Feuchtinger A, Hauck SM, Ueffing M
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1. May 2014 (HOPE)
Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy
Am J Hum Genet. 94:760-9.
Sergouniotis PI, Chakarova C, Murphy C, Becker M, Lenassi E, Arno G, Lek M, MacArthur DG, UCL-exomes consortium, Bhattacharya SS, Farooqi IS, Moore AT. Holder GE, Robson AG, Wolfrum U, Webster AR, Plagnol V
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25. March 2014 (HOPE)
The neuroprotective potential of retinal Müller glial cells
Advances in Experimental and Medicinal Biology. 801:381-7
Hauck SM, von Toerne C, Ueffing M
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1. December 2013 (HOPE)
Therapieansätze für Erbliche Netzhauterkrankungen: Von den Genen bis zum Chip.
Klin Monbl Augenheilkd. Accepted.
Arango-Gonzalez B, Leitritz M, Fischer D, Gerberding M, Paquet-Durand F und Ueffing M.
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5. September 2013 (HOPE)
Mutations in IMPG1 Cause Vitelliform Macular Dystrophies.
Am J Hum Genet. 2013 Sep 5;93(3):571-8.
Manes G, Meunier I, Avila-Fernández A, Banfi S, Le Meur G, Zanlonghi , X, Corton M, Simonelli F, Brabet P, Labesse G, Audo I, Mohand-Said S, Zeitz C, Sahel JA, Weber M, Dollfus H, Dhaenens CM, Allorge D, De Baere E, Koenekoop RK, Kohl S, Cremers FPM, Hollyfield JG, Sénéchal A, Hebrard M, Bocquet B, Ayuso García C, Hamel CP (2013).
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29. August 2013 (HOPE)
Osteopontin inhibits osmotic swelling of retinal glial (Müller) cells by inducing release of VEGF.
Neuroscience. 2013 Aug 29;246:59-72. doi: 10.1016/j.neuroscience.2013.04.045. Epub 2013 Apr 30.
Wahl V, Vogler S, Grosche A, Pannicke T, Ueffing M, Wiedemann P, Reichenbach A, Hauck SM, Bringmann A.
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11. July 2013 (HOPE)
Mutations in RAB28, Encoding a Farnesylated Small GTPase, Are Associated with Autosomal-Recessive Cone-Rod Dystrophy.
Am J Hum Genet. 2013 Jul 11;93(1):110-7. doi: 10.1016/j.ajhg.2013.05.005. Epub 2013 Jun 6.
Roosing S, Rohrschneider K, Beryozkin A, Sharon D, Weisschuh N, Staller J, Kohl S, Zelinger L, Peters TA, Neveling K, Strom TM; European Retinal Disease Consortium, van den Born LI, Hoyng CB, Klaver CC, Roepman R, Wissinger B, Banin E, Cremers FP, den Hollander AI.
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13. June 2013 (HOPE)
Identification of a novel mutation in the PRCD gene causing autosomal recessive retinitis pigmentosa in a Turkish family.
Mol Vis. 2013 Jun 13;19:1350-5. Print 2013.
Pach J, Kohl S, Gekeler F, Zobor D.
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17. April 2013 (HOPE)
Panel-based next generation sequencing as a reliable and efficient technique to detect mutations in unselected patients with retinal dystrophies.
Eur J Hum Genet. 2013 Apr 17. doi: 10.1038/ejhg.2013.72. [Epub ahead of print]
Glöckle N, Kohl S, Mohr J, Scheurenbrand T, Sprecher A, Weisschuh N, Bernd A, Rudolph G, Schubach M, Poloschek C, Zrenner E, Biskup S, Berger W, Wissinger B, Neidhardt J.
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24. March 2013 (HOPE)
Genetic Diagnostic Testing in Inherited Retinal Dystrophies.
Klin Monbl Augenheilkd. 2013 Mar;230(3):243-6
Kohl S, Biskup S (2013).
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28. January 2013 (HOPE)
Successful subretinal delivery and monitoring of MicroBeads in mice.
PLoS One. 2013;8(1):e55173. doi: 10.1371/journal.pone.0055173. Epub 2013 Jan 28.
Fischer MD, Goldmann T, Wallrapp C, Mühlfriedel R, Beck SC, Stern-Schneider G, Ueffing M, Wolfrum U, Seeliger MW.
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31. October 2012 (HOPE)
The special electrophysiological signs of inherited retinal dystrophies.
Open Ophthalmol J. 2012;6:86-97. doi: 10.2174/1874364101206010086. Epub 2012 Oct 31.
Prokofyeva E, Troeger E, Zrenner E.
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1. June 2012 (HOPE)
Direct comparison of MS-based label-free and SILAC quantitative proteome profiling strategies in primary retinal Müller cells.
Proteomics. 2012 Jun;12(12):1902-11. doi: 10.1002/pmic.201100549.
Merl J, Ueffing M, Hauck SM, von Toerne C.
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1. February 2012 (HOPE)
Assessment of “non-recordable” electroretinograms by 9 Hz flicker stimulation under scotopic conditions.
Doc Ophthalmol. 2012 Feb;124(1):27-39. doi: 10.1007/s10633-011-9302-1. Epub 2011 Dec 18
Schatz A, Wilke R, Strasser T, Gekeler F, Messias A, Zrenner E.
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26. November 2011 (HOPE)
Epidemiology of major eye diseases leading to blindness in Europe: a literature review.
Ophthalmic Res. 2012;47(4):171-88. doi: 10.1159/000329603. Epub 2011 Nov 26.
Prokofyeva E, Zrenner E.
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18. November 2011 (HOPE)
Visual acuity changes in cone and cone-rod dystrophies.
Ophthalmic Physiol Opt. 2012 Jan;32(1):53-9. doi: 10.1111/j.1475-1313.2011.00883.x. Epub 2011 Nov 18.
Prokofyeva E, Troeger E, Bernd A, Zrenner E.
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1. May 2011 (HOPE)
GDNF-induced osteopontin from Müller glial cells promotes photoreceptor survival in the Pde6brd1 mouse model of retinal degeneration.
Glia. 2011 May;59(5):821-32. doi: 10.1002/glia.21155. Epub 2011 Feb 28.
Del Río P, Irmler M, Arango-González B, Favor J, Bobe C, Bartsch U, Vecino E, Beckers J, Hauck SM, Ueffing M.
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15. February 2011 (HOPE)
A new DTL-electrode holder for recording of electroretinograms in animals.
J Neurosci Methods. 2011 Feb 15;195(2):128-34. doi: 10.1016/j.jneumeth.2010.10.030. Epub 2010 Nov 12.
Schatz A, Willmann G, Enderle H, Sliesoraityte I, Messias A, Bartz-Schmidt KU, Zrenner E, Gekeler F.
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2. July 2010 (HOPE)
High-throughput resequencing in the diagnosis of BRCA1/2 mutations using oligonucleotide resequencing microarrays.
Breast Cancer Res Treat. 2010 Jul;122(1):287-97. doi: 10.1007/s10549-009-0639-z. Epub 2009 Nov 26.
Schroeder C, Stutzmann F, Weber BH, Riess O, Bonin M.
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2. January 2010 (HOPE)
An integrated software solution for multi-modal mapping of morphological and functional ocular data.
Conf Proc IEEE Eng Med Biol Soc. 2010;2010:6280-3. doi: 10.1109/IEMBS.2010.5628081.
Troeger E, Sliesoraityte I, Charbel Issa P, Scholl HN, Zrenner E, Wilke R.
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1. December 2009 (HOPE)
Evidence-based diagnostic approach to inherited retinal dystrophies 2009.
Klin Monbl Augenheilkd. 2009 Dec;226(12):999-1011. doi: 10.1055/s-0028-1109684. Epub 2009 Sep 15.
Kellner U, Kellner S, Renner AB, Fiebig BS, Weinitz S, Weber BH.