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Mitofusin 2 Dysfunction and Disease in Mice and Men

9 Jul 2020

Abstract excerpt

A causal relationship between Mitofusin (MFN) 2 gene mutations and the hereditary axonal neuropathy Charcot-Marie-Tooth disease type 2A (CMT2A) was described over 15 years ago. During the intervening period much has been learned about MFN2 functioning in mitochondrial fusion, calcium signaling, and quality control, and the consequences of these MFN2 activities on cell metabolism, fitness, and development....

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PMID: 32733278
DOI: 10.3389/fphys.2020.00782

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