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...
Main Authors: | , , , |
---|---|
Format: | Article |
Language: | English |
Published: |
Elsevier
2002-10-01
|
Series: | Neurobiology of Disease |
Subjects: | |
Online Access: | http://www.sciencedirect.com/science/article/pii/S0969996102905450 |