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Article

Mitofusin gain and loss of function drive pathogenesis in Drosophila models of CMT2A neuropathy.

EMBO reports - 1 Aug 2018

El Fissi Najla, Rojo Manuel, Aouane Aїcha, Karatas Esra, Poliacikova Gabriela, David Claudine, Royet Julien, Rival Thomas

Abstract excerpt

Charcot-Marie-Tooth disease type 2A (CMT2A) is caused by dominant alleles of the mitochondrial pro-fusion factor Mitofusin 2 (MFN2). To address the consequences of these mutations on mitofusin activity and neuronal function, we generate Drosophila models expressing in neurons the two most frequent substitutions (R94Q and R364W, the latter never studied before) and two others localizing to similar domains (T105M...

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Source

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Identifiers

PMID: 29898954
DOI: 10.15252/embr.201745241
PMCID: PMC6073211

Genes

MFN2

Provenance

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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