Article
Altered trafficking of mutant connexin32.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Dec 1997
Deschênes S M, Walcott J L, Wexler T L, Scherer S S, Fischbeck K H
Abstract excerpt
We examined the cellular localization of nine different connexin32 (Cx32) mutants associated with X-linked Charcot-Marie-Tooth disease (CMTX) in communication-incompetent mammalian cells. Cx32 mRNA was made, but little or no protein was detected in one class of mutants. In another class of mutants, Cx32 protein was detectable in the cytoplasm and at the cell surface, where it appeared as plaques and punctate...
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