Article
Charcot-Marie-tooth disease causing mutation (p.R158H) in pyruvate dehydrogenase kinase 3 (PDK3) affects synaptic transmission, ATP production and causes neurodegeneration in a CMTX6 C. elegans model.
Human molecular genetics - 17 Dec 2021
Narayanan Ramesh K, Brewer Megan H, Perez-Siles Gonzalo, Ellis Melina, Ly Carolyn, Burgess Andrew, Neumann Brent, Nicholson Garth A, Vucic Steve, Kennerson Marina L
Abstract excerpt
Charcot-Marie-Tooth (CMT) is a commonly inherited, non-fatal neurodegenerative disorder that affects sensory and motor neurons in patients. More than 90 genes are known to cause axonal and demyelinating forms of CMT. The p.R158H mutation in the pyruvate dehydrogenase kinase 3 (PDK3) gene is the genetic cause for an X linked form of axonal CMT (CMTX6). In vitro studies using patient fibroblasts and iPSC-derived...
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