Article

Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy

2021-07-28

Abstract excerpt

Recent evidence has uncovered an important role of Rab7 in regulating mitochondrial morphology and function. Missense mutation(s) of Rab7 underlies the pathogenesis of Charcot Marie Tooth 2B (CMT2B) peripheral neuropathy. Herein, we investigated how mitochondrial morphology and function were impacted by the CMT2B associated Rab7 V162M mutation in fibroblasts from human CMT2B patients as well as in a knockin mouse...

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Literature Corpus work: 81cb9b4e-35ba-5ece-9d8b-f81b9d38e9cd
DOI: 10.1101/2021.07.28.454213

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