Loss of functional OPA1 unbalances redox state: implications in dominant optic atrophy pathogenesis

OBJECTIVE: OPA1 mutations cause protein haploinsufficiency leading to dominant optic atrophy (DOA), an incurable retinopathy with variable severity. Up to 20% of patients also develop extraocular neurological complications. The mechanisms that cause this optic atrophy or its syndromic forms are stil...

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Detalhes bibliográficos
Publicado no:Ann Clin Transl Neurol
Main Authors: Millet, Aurélie M. C., Bertholet, Ambre M., Daloyau, Marlène, Reynier, Pascal, Galinier, Anne, Devin, Anne, Wissinguer, Bernd, Belenguer, Pascale, Davezac, Noélie
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2016
Assuntos:
Research Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4891995/
https://ncbi.nlm.nih.gov/pubmed/27547769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/acn3.305
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