Article
Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations.
Proceedings of the National Academy of Sciences of the United States of America - 18 Apr 2017
Sleigh James N, Dawes John M, West Steven J, Wei Na, Spaulding Emily L, Gómez-Martín Adriana, Zhang Qian, Burgess Robert W, Cader M Zameel, Talbot Kevin, Yang Xiang-Lei, Bennett David L, Schiavo Giampietro
Abstract excerpt
Charcot-Marie-Tooth disease type 2D (CMT2D) is a peripheral nerve disorder caused by dominant, toxic, gain-of-function mutations in the widely expressed, housekeeping gene, GARS The mechanisms underlying selective nerve pathology in CMT2D remain unresolved, as does the cause of the mild-to-moderate sensory involvement that distinguishes CMT2D from the allelic disorder distal spinal muscular atrophy type V. To...
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