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

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 gene...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
General Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8682796/
https://www.ncbi.nlm.nih.gov/pubmed/34387338
http://dx.doi.org/10.1093/hmg/ddab228

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