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

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

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 pyruva...

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Bibliographic Details
Main Authors: Gonzalo Perez-Siles, Carolyn Ly, Adrienne Grant, Alexander P. Drew, Eppie M. Yiu, Monique M. Ryan, David T. Chuang, Shih-Chia Tso, Garth A. Nicholson, Marina L. Kennerson
Format: Article
Language:English
Published: Elsevier 2016-10-01
Series:Neurobiology of Disease
Subjects:
X-linked Charcot-Marie-Tooth neuropathy
Pyruvate dehydrogenase kinase 3
Pyruvate dehydrogenase complex
Mitochondria
Patient fibroblasts
Dichloroacetic acid
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996116301607

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http://www.sciencedirect.com/science/article/pii/S0969996116301607

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