B
Bernd Wissinger
Researcher at University of Tübingen
Publications - 269
Citations - 14584
Bernd Wissinger is an academic researcher from University of Tübingen. The author has contributed to research in topics: Achromatopsia & Gene. The author has an hindex of 60, co-authored 258 publications receiving 13018 citations.
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Journal ArticleDOI
OPA1, encoding a dynamin-related GTPase, is mutated in autosomal dominant optic atrophy linked to chromosome 3q28.
Christiane Alexander,Marcela Votruba,Marcela Votruba,Ulrike E.A. Pesch,Dawn L. Thiselton,Simone Mayer,Anthony T. Moore,Miguel Rodríguez,Ulrich Kellner,Beate Leo-Kottler,Georg Auburger,Shomi S. Bhattacharya,Bernd Wissinger +12 more
TL;DR: The presence of consensus signal peptide sequences suggests that the product of the gene OPA1 is targeted to mitochondria and may exert its function in mitochondrial biogenesis and stabilization of mitochondrial membrane integrity.
Journal ArticleDOI
OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes
Patrizia Amati-Bonneau,Maria Lucia Valentino,Pascal Reynier,María Esther Gallardo,Belén Bornstein,Anne Boissiere,Yolanda Campos,Henry Rivera,Jesús González de la Aleja,Rosanna Carroccia,Luisa Iommarini,Pierre Labauge,Dominique Figarella-Branger,Pascale Marcorelles,Alain Furby,Katell Beauvais,Franck Letournel,Rocco Liguori,Chiara La Morgia,Pasquale Montagna,Maria Liguori,Claudia Zanna,Michela Rugolo,Andrea Cossarizza,Bernd Wissinger,Christophe Verny,Robert Schwarzenbacher,Miguel A. Martín,Joaquiotan Arenas,Carmen Ayuso,Rafael Garesse,Guy Lenaers,Dominique Bonneau,Valerio Carelli +33 more
TL;DR: In this paper, mutations in the OPA1 gene can also be responsible for a syndromic form of DOA associated with sensorineural deafness, ataxia, axonal sensory-motor polyneuropathy, chronic progressive external ophthalmoplegia and mitochondrial myopathy.
Journal ArticleDOI
RNA Editing in Plant Mitochondria
TL;DR: Current research focuses on the elucidation of the biochemistry and the specificity determinants of RNA editing in plant mitochondria.
Journal ArticleDOI
Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene
Anneke I. den Hollander,John R. Heckenlively,L. Ingeborgh van den Born,Yvette J. M. de Kok,Saskia D. van der Velde-Visser,Ulrich Kellner,Bernhard Jurklies,Mary J. van Schooneveld,A. Blankenagel,Klaus Rohrschneider,Bernd Wissinger,J.R.M. Cruysberg,August F. Deutman,Han G. Brunner,Eckart Apfelstedt-Sylla,Carel B. Hoyng,Frans P.M. Cremers +16 more
TL;DR: It is suggested that CRB1 mutations are a frequent cause of LCA and are strongly associated with the development of Coats-like exudative vasculopathy in patients with RP.
Journal ArticleDOI
Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel.
Susanne Kohl,Tim Marx,Ian Giddings,Herbert Jägle,Samuel G. Jacobson,Eckhart Apfelstedt-Sylla,Eberhart Zrenner,Lindsay T. Sharpe,Bernd Wissinger +8 more
TL;DR: This is the first report of a colour vision disorder caused by defects other than mutations in the cone pigment genes, and implies at least in this instance a common genetic basis for phototransduction in the three different cone photoreceptors of the human retina.