Article
CMT2B-associated Rab7 mutants inhibit neurite outgrowth.
Acta neuropathologica - 1 Oct 2010
Cogli Laura, Progida Cinzia, Lecci Raffaella, Bramato Roberta, Krüttgen Alex, Bucci Cecilia
Abstract excerpt
Charco-Marie-Tooth type 2B (CMT2B) neuropathy is a rare autosomal-dominant axonal disorder characterized by distal weakness, muscle atrophy, and prominent sensory loss often complicated by foot ulcerations. CMT2B is associated with mutations of the Rab7 protein, a small GTPase controlling late endocytic traffic. Currently, it is still unknown how these mutations cause the neuropathy. Indeed, CMT2B selectively...
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