Title: 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.
Authors: Narayanan RK, Brewer MH, Perez-Siles G, Ellis M, Ly C, Burgess A, Neumann B, Nicholson GA, Vucic S, Kennerson ML
Journal: Hum Mol Genet
Published: 2021-08-13