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

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

Abstract 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.P4...

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Autores principales: Juanjuan Zhang, Xiaoling Liu, Xiaoyang Liang, Yuanyuan Lu, Ling Zhu, Runing Fu, Yanchun Ji, Wenlu Fan, Jie Chen, Bing Lin, Yimin Yuan, Pingping Jiang, Xiangtian Zhou, Min-Xin Guan
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
Materias:
Medicine
R
Science
Q
Acceso en línea:https://doaj.org/article/fcfbc8471f944ec8a3d919a33f79392d
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