Mitochondrial dysfunction in an Opa1(Q285STOP) mouse model of dominant optic atrophy results from Opa1 haploinsufficiency

Mutations in the opa1 (optic atrophy 1) gene lead to autosomal dominant optic atrophy (ADOA), a hereditary eye disease. This gene encodes the Opa1 protein, a mitochondrial dynamin-related GTPase required for mitochondrial fusion and the maintenance of normal crista structure. The majority of opa1 mu...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:Cell Death Dis
Prif Awduron: Kushnareva, Y, Seong, Y, Andreyev, A Y, Kuwana, T, Kiosses, W B, Votruba, M, Newmeyer, D D
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: Nature Publishing Group 2016
Pynciau:
Original Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4973340/
https://ncbi.nlm.nih.gov/pubmed/27468686
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/cddis.2016.160
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