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Mitofusin 2 mutation drives cell proliferation in Charcot-Marie-Tooth 2A fibroblasts.

Human molecular genetics - 6 Jan 2023

Zanfardino Paola, Longo Giovanna, Amati Alessandro, Morani Federica, Picardi Ernesto, Girolamo Francesco, Pafundi Mariella, Cox Sharon N, Manzari Caterina, Tullo Apollonia, Doccini Stefano, Santorelli Filippo M, Petruzzella Vittoria

Abstract excerpt

Dominant mutations in ubiquitously expressed mitofusin 2 gene (MFN2) cause Charcot-Marie-Tooth type 2A (CMT2A; OMIM 609260), an inherited sensory-motor neuropathy that affects peripheral nerve axons. Mitofusin 2 protein has been found to take part in mitochondrial fusion, mitochondria-endoplasmic reticulum tethering, mitochondrial trafficking along axons, mitochondrial quality control and various types of cancer,...

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Identifiers

PMID: 35994048
DOI: 10.1093/hmg/ddac201

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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