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Article

Pathogenic mechanisms underlying X-linked Charcot-Marie-Tooth neuropathy (CMTX6) in patients with a pyruvate dehydrogenase kinase 3 mutation.

Neurobiology of disease - 1 Oct 2016

Perez-Siles Gonzalo, Ly Carolyn, Grant Adrienne, Drew Alexander P, Yiu Eppie M, Ryan Monique M, Chuang David T, Tso Shih-Chia, Nicholson Garth A, Kennerson Marina L

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. An X-linked form of CMT (CMTX6) is caused by a missense mutation (R158H) in the pyruvate dehydrogenase kinase isoenzyme 3 (PDK3) gene. PDK3 is one of 4 isoenzymes that negatively regulate the activity of the pyruvate dehydrogenase complex (PDC) by reversible phosphorylation of its first catalytic component pyruvate dehydrogenase...

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Identifiers

PMID: 27388934
DOI: 10.1016/j.nbd.2016.07.001

Genes

PDK3
PDC

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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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