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...

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Detalles Bibliográficos
Autores principales: Kushnareva, Y, Seong, Y, Andreyev, A Y, Kuwana, T, Kiosses, W B, Votruba, M, Newmeyer, D D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2016
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973340/
https://www.ncbi.nlm.nih.gov/pubmed/27468686
http://dx.doi.org/10.1038/cddis.2016.160

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973340/
https://www.ncbi.nlm.nih.gov/pubmed/27468686
http://dx.doi.org/10.1038/cddis.2016.160

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