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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Bibliografske podrobnosti
izdano v:J Cell Mol Med
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2017
Teme:
Original Articles
Online dostop: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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