Table of Contents
Int. J. Mol. Sci., Volume 18, Issue 2 (February 2017)
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Cover Story Five missense point mutations occurring near the nucleotide-binding pocket are associated with [...] Read more. Five missense point mutations occurring near the nucleotide-binding pocket are associated with Charcot-Marie-Tooth Disease 2B peripheral sensory neuropathy. It is believed that these mutations cause an increase in Rab7 activation, leading to alteration in axonal trafficking and signaling of neurotrophic factors in peripheral sensory neurons. A detailed understanding of the molecular and cellular mechanisms underlying these mutations is crucial to developing potential therapies for CMT2B. View this paper.