Article
Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.
American journal of physiology. Cell physiology - 1 May 2011
Tong Jun-Jie, Minogue Peter J, Guo Wenji, Chen Tung-Ling, Beyer Eric C, Berthoud Viviana M, Ebihara Lisa
Abstract excerpt
Gap junction channels, which are made of connexins, are critical for intercellular communication, a function that may be disrupted in a variety of diseases. We studied the consequences of two cataract-associated mutations at adjacent positions at the first extracellular boundary in human connexin50 (Cx50), W45S and G46V. Both of these mutants formed gap junctional plaques when they were expressed in HeLa cells,...
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