Article
Boosting peripheral BDNF rescues impaired in vivo axonal transport in CMT2D mice.
JCI insight - 8 May 2023
Sleigh James N, Villarroel-Campos David, Surana Sunaina, Wickenden Tahmina, Tong Yao, Simkin Rebecca L, Vargas Jose Norberto S, Rhymes Elena R, Tosolini Andrew P, West Steven J, Zhang Qian, Yang Xiang-Lei, Schiavo Giampietro
Abstract excerpt
Gain-of-function mutations in the housekeeping gene GARS1, which lead to the expression of toxic versions of glycyl-tRNA synthetase (GlyRS), cause the selective motor and sensory pathology characterizing Charcot-Marie-Tooth disease (CMT). Aberrant interactions between GlyRS mutants and different proteins, including neurotrophin receptor tropomyosin receptor kinase receptor B (TrkB), underlie CMT type 2D (CMT2D);...
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