Article
Mutation of SIMPLE in Charcot-Marie-Tooth 1C alters production of exosomes.
Molecular biology of the cell - 1 Jun 2013
Zhu Hong, Guariglia Sara, Yu Raymond Y L, Li Wenjing, Brancho Deborah, Peinado Hector, Lyden David, Salzer James, Bennett Craig, Chow Chi-Wing
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease is an inherited neurological disorder. Mutations in the small integral membrane protein of the lysosome/late endosome (SIMPLE) account for the rare autosomal-dominant demyelination in CMT1C patients. Understanding the molecular basis of CMT1C pathogenesis is impeded, in part, by perplexity about the role of SIMPLE, which is expressed in multiple cell types. Here we show that...
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