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Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

Optic Atrophy 1 (OPA1) gene mutations cause diseases ranging from isolated dominant optic atrophy (DOA) to various multisystemic disorders. OPA1, a large GTPase belonging to the dynamin family, is involved in mitochondrial network dynamics. The majority of OPA1 mutations encodes truncated forms of t...

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Detalles Bibliográficos
Autores principales:	Kane, Mariame Selma, Alban, Jennifer, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Ishak, Layal, Ferre, Marc, Amati‐Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal, Chevrollier, Arnaud
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2017
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5618673/ https://www.ncbi.nlm.nih.gov/pubmed/28378518 http://dx.doi.org/10.1111/jcmm.13149

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