Article
Changes in Mitochondrial Morphology and Bioenergetics in Human Lymphoblastoid Cells With Four Novel OPA1 Mutations.
Investigative ophthalmology & visual science - 1 Apr 2015
Kao Shu-Huei, Yen May-Yung, Wang An-Guor, Yeh Yi-Ling, Lin An-Lo
Abstract excerpt
PURPOSE: Mutations in the optic atrophy 1 gene (OPA1) have been reported in patients with autosomal dominant optic atrophy (ADOA). OPA1 plays important roles in mitochondrial dynamics and cell apoptosis. The link between OPA1 mutations and changes in bioenergetics is still not fully resolved. The aim of this study was to investigate the effects of OPA1 mutations on the mitochondrial tubular network and...
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