Article
Assocation Between Leber's Hereditary Optic Neuropathy and MT-ND1 3460G>A Mutation-Induced Alterations in Mitochondrial Function, Apoptosis, and Mitophagy.
Investigative ophthalmology & visual science - 1 Jul 2021
Zhang Juanjuan, Ji Yanchun, Chen Jie, Xu Man, Wang Guoping, Ci Xiaorui, Lin Bing, Mo Jun Q, Zhou Xiangtian, Guan Min-Xin
Abstract excerpt
Purpose: To investigate the molecular mechanism underlying the Leber's hereditary optic neuropathy (LHON)-linked MT-ND1 3460G>A mutation. Methods: Cybrid cell models were generated by fusing mitochondrial DNA-less ρ0 cells with enucleated cells from a patient carrying the m.3460G>A mutation and a control subject. The impact of m.3460G>A mutations on oxidative phosphorylation was evaluated using Blue Native gel...
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