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...

Fuld beskrivelse

Na minha lista:
Bibliografiske detaljer
Udgivet i: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
Format: Artigo
Sprog:Inglês
Udgivet: John Wiley and Sons Inc. 2016
Fag:
Research Articles
Online adgang: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
Tags: Tilføj Tag
Ingen Tags, Vær først til at tagge denne postø!

Lignende værker