Article
Mfn2R364W, Mfn2G176S, and Mfn2H165R mutations drive Charcot-Marie-Tooth type 2A disease by inducing apoptosis and mitochondrial oxidative phosphorylation damage.
International journal of biological macromolecules - 1 Oct 2024
Zhang Yuanzhu, Ma Lerong, Wang Ziru, Gao Chuang, Yang Lin, Li Mengjing, Tang Xiaochun, Yuan Hongming, Pang Daxin, Ouyang Hongsheng
Abstract excerpt
Charcot-Marie-Tooth type 2A (CMT2A) is a single-gene motor sensory neuropathy caused by Mfn2 mutation. It is generally believed that CMT2A involves mitochondrial fusion disruption. However, how Mfn2 mutation mediates the mitochondrial membrane fusion loss and its further pathogenic mechanisms remain unclear. Here, in vivo and in vitro mouse models harboring the Mfn2R364W, Mfn2G176S and Mfn2H165R mutations were...
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