Article
The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins.
Journal of cell science - 1 Dec 2007
DeRosa Adam M, Xia Chun-Hong, Gong Xiaohua, White Thomas W
Abstract excerpt
Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes. To determine the mechanism behind cataract formation we used the paired Xenopus oocyte system in conjunction with transfected HeLa cells and genetically engineered mouse models to examine the functional characteristics of gap junctions in which a cataract-causing mutant of Cx50 (hereafter referred to as Cx50-S50P) is expressed....
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