Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.

@article{Tong2011DifferentCO,
  title={Different consequences of cataract-associated mutations at adjacent positions in the first extracellular boundary of connexin50.},
  author={Jun-Jie Tong and Peter J. Minogue and Wenji Guo and T L Chen and Eric C Beyer and Viviana M. Berthoud and Lisa Ebihara},
  journal={American journal of physiology. Cell physiology},
  year={2011},
  volume={300 5},
  pages={C1055-64}
}
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, suggesting that they trafficked to the plasma membrane properly. However, their… CONTINUE READING