Diverse Trafficking Abnormalities of Connexin32 Mutants Causing CMTX

Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-linked Charcot–Marie–Tooth disease (CMTX). We compared the localization of CMTX mutants that affect different domains of Cx32, by expressing them in HeLa cells. Mutants were localized to the endoplasmic reticulu...

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Bibliographic Details
Main Authors: Sabrina W. Yum, Kleopas A. Kleopa, Susan Shumas, Steven S. Scherer
Format: Article
Language:English
Published: Elsevier 2002-10-01
Series:Neurobiology of Disease
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996102905450