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XB-ART-1987
Ann Neurol 2005 May 01;575:749-54. doi: 10.1002/ana.20459.
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Severe neuropathy with leaky connexin32 hemichannels.

Liang GS , de Miguel M , Gómez-Hernández JM , Glass JD , Scherer SS , Mintz M , Barrio LC , Fischbeck KH .


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X-linked Charcot-Marie-Tooth disease is one of a set of diseases caused by mutations in gap junction proteins called connexins. We identified a connexin32 missense mutation (F235C) in a girl with unusually severe neuropathy. The localization and trafficking of the mutant protein in cell culture was normal, but electrophysiological studies showed that the mutation caused abnormal hemichannel opening, with excessive permeability of the plasma membrane and decreased cell survival. Abnormal leakiness of connexin hemichannels is likely a mechanism of cellular toxicity in this and perhaps other diseases caused by connexin mutations.

???displayArticle.pubmedLink??? 15852376
???displayArticle.link??? Ann Neurol
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Species referenced: Xenopus
Genes referenced: gjb1

???displayArticle.disOnts??? Charcot-Marie-Tooth disease [+]