Τρίτη 18 Απριλίου 2017

Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations [Neuroscience]

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...

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