Article
The effects of a dominant connexin32 mutant in myelinating Schwann cells.
Molecular and cellular neurosciences - 1 Jul 2006
Jeng Linda Jo Bone, Balice-Gordon Rita J, Messing Albee, Fischbeck Kenneth H, Scherer Steven S
Abstract excerpt
Mutations in GJB1, the gene encoding the gap junction protein connexin32 (Cx32), cause X-linked Charcot-Marie-Tooth disease, an inherited demyelinating peripheral neuropathy. We generated transgenic mice that express the R142W mutation in myelinating Schwann cells. The R142W mutant protein was aberrantly localized to the Golgi, indicating that it does not traffic properly, but the molecular organization of the...
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