Expression and subcellular localization of USH1C/harmonin in human retina provides insights into pathomechanisms and therapy

Autor: Kerstin Nagel-Wolfrum, Benjamin R Fadl, Mirjana M Becker, Kirsten A Wunderlich, Jessica Schäfer, Daniel Sturm, Jacques Fritze, Burcu Gür, Lew Kaplan, Tommaso Andreani, Tobias Goldmann, Matthew Brooks, Margaret R Starostik, Anagha Lokhande, Melissa Apel, Karl R Fath, Katarina Stingl, Susanne Kohl, Margaret M DeAngelis, Ursula Schlötzer-Schrehardt, Ivana K Kim, Leah A Owen, Jan M Vetter, Norbert Pfeiffer, Miguel A Andrade-Navarro, Antje Grosche, Anand Swaroop, Uwe Wolfrum

Usher syndrome (USH) is the most common form of hereditary deaf-blindness in humans. USH is a complex genetic disorder, assigned to three clinical subtypes differing in onset, course and severity, with USH1 being the most severe. Rodent USH1 models d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f54ab98f223800a320d8b2134cdb99c7

Biallelic variants in TTLL5, encoding a tubulin glutamylase, cause retinal dystrophy.

Autor: Sergouniotis PI; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Chakarova C; UCL Institute of Ophthalmology, London EC1V 9EL, UK., Murphy C; UCL Genetics Institute, London WC1E 6BT, UK., Becker M; Institute of Zoology, Focus Program Translational Neurosciences, Johannes Gutenberg University of Mainz, Mainz 55099, Germany., Lenassi E; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Arno G; UCL Institute of Ophthalmology, London EC1V 9EL, UK., Lek M; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., MacArthur DG; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Program in Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA 02142, USA., Bhattacharya SS; UCL Institute of Ophthalmology, London EC1V 9EL, UK., Moore AT; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Holder GE; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Robson AG; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK., Wolfrum U; Institute of Zoology, Focus Program Translational Neurosciences, Johannes Gutenberg University of Mainz, Mainz 55099, Germany., Webster AR; UCL Institute of Ophthalmology, London EC1V 9EL, UK; Moorfields Eye Hospital, London EC1V 2PD, UK. Electronic address: andrew.webster@ucl.ac.uk., Plagnol V; UCL Genetics Institute, London WC1E 6BT, UK.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2014 May 01; Vol. 94 (5), pp. 760-9.