A novel ADOA-associated OPA1 mutation alters the mitochondrial function, membrane potential, ROS production and apoptosis

Autosomal dominant optic atrophy (ADOA) is a dominantly inherited optic neuropathy, affecting the specific loss of retinal ganglion cells (RGCs). The majority of affected cases of ADOA are associated with mutations in OPA1 gene. Our previous investigation identified the c.1198C > G (p.P400A) muta...

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Detalles Bibliográficos
Autores principales: Zhang, Juanjuan, Liu, Xiaoling, Liang, Xiaoyang, Lu, Yuanyuan, Zhu, Ling, Fu, Runing, Ji, Yanchun, Fan, Wenlu, Chen, Jie, Lin, Bing, Yuan, Yimin, Jiang, Pingping, Zhou, Xiangtian, Guan, Min-Xin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2017
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5515948/
https://www.ncbi.nlm.nih.gov/pubmed/28720802
http://dx.doi.org/10.1038/s41598-017-05571-y

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