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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...

詳細記述

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書誌詳細
出版年:J Cell Mol Med
主要な著者: 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
フォーマット: Artigo
言語:Inglês
出版事項: John Wiley and Sons Inc. 2017
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC5618673/
https://ncbi.nlm.nih.gov/pubmed/28378518
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jcmm.13149
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