Article
Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot-Marie-Tooth disease.
Neurobiology of disease - 1 Mar 2006
Bicego Massimiliano, Morassutto Sabina, Hernandez Victor H, Morgutti Marcello, Mammano Fabio, D'Andrea Paola, Bruzzone Roberto
Abstract excerpt
The X-linked form of Charcot-Marie-Tooth disease (CMTX) is caused by mutations in connexin32 (Cx32), a gap junction protein expressed by Schwann cells where it forms reflexive channels that allow the passage of ions and signaling molecules across the myelin sheath. Although most mutations result in loss of function, several studies have reported that some retain the ability to form homotypic intercellular...
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