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Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.

Neurogenetics - 1 Feb 2010

Guillet Virginie, Gueguen Naïg, Verny Christophe, Ferre Marc, Homedan Chadi, Loiseau Dominique, Procaccio Vincent, Amati-Bonneau Patrizia, Bonneau Dominique, Reynier Pascal, Chevrollier Arnaud

Abstract excerpt

Charcot-Marie-Tooth type 2A disease (CMT2A), a dominantly inherited peripheral neuropathy, is caused by mutations in MFN2, a mitochondrial fusion protein. Having previously demonstrated a mitochondrial coupling defect in CMT2A patients' fibroblasts, we here investigate mitochondrial oxygen consumption and the expression of adenine nucleotide translocase (ANT) and uncoupling proteins from eight other patients with...

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Identifiers

PMID: 19618221
DOI: 10.1007/s10048-009-0207-z

Genes

MFN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Adenine nucleotide translocase is involved in a mitochondrial coupling defect in MFN2-related Charcot-Marie-Tooth type 2A disease.PMID 19618221Read ↗

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