Mutation of SIMPLE in Charcot–Marie–Tooth 1C alters production of exosomes

Authors

Hong Zhu, Albert Einstein College of Medicine
Sara Guariglia, CUNY College of Staten Island
Raymond Y. L. Yu, Albert Einstein College of Medicine
Wenjing Li, Albert Einstein College of Medicine
Deborah Brancho, Albert Einstein College of Medicine
Hector Peinado, Weill Cornell Medical College
David Lyden, Weill Cornell Medical College
James Salzer, New York University
Craig Bennett, University of Washington
Chi-Wing Chow, Albert Einstein College of Medicine

Document Type

Article

Publication Date

June 2013

Abstract

Mutations in the protein SIMPLE account for the rare autosomal-dominant demyelination in type 1C CMT patients (CMT1C). SIMPLE plays a role in the production of exosomes. Dysregulated endosomal trafficking and changes in exosome-mediated intercellular communications might account for CMT1C molecular pathogenesis.

Comments

This work was originally published in Molecular Biology of the Cell, available at doi:10.1091/mbc.E12-07-0544.