Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.

doi:10.7554/eLife.61119

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Article

Burst mitofusin activation reverses neuromuscular dysfunction in murine CMT2A.

eLife - 19 Oct 2020

Franco Antonietta, Dang Xiawei, Walton Emily K, Ho Joshua N, Zablocka Barbara, Ly Cindy, Miller Timothy M, Baloh Robert H, Shy Michael E, Yoo Andrew S, Dorn Gerald W

Abstract excerpt

Charcot-Marie-Tooth disease type 2A (CMT2A) is an untreatable childhood peripheral neuropathy caused by mutations of the mitochondrial fusion protein, mitofusin (MFN) 2. Here, pharmacological activation of endogenous normal mitofusins overcame dominant inhibitory effects of CMT2A mutants in reprogrammed human patient motor neurons, reversing hallmark mitochondrial stasis and fragmentation independent of causal...

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Identifiers

PMID: 33074106
DOI: 10.7554/eLife.61119
PMCID: PMC7655101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.