Article
Liddle's syndrome mutations increase Na+ transport through dual effects on epithelial Na+ channel surface expression and proteolytic cleavage.
Proceedings of the National Academy of Sciences of the United States of America - 21 Feb 2006
Knight Kristin K, Olson Diane R, Zhou Ruifeng, Snyder Peter M
Abstract excerpt
Liddle's syndrome, an inherited form of hypertension, is caused by mutations that delete or disrupt a C-terminal PY motif in the epithelial Na+ channel (ENaC). Previous work indicates that these mutations increase expression of ENaC at the cell surface by disrupting its binding to Nedd4-2, an E3 ubiquitin-protein ligase that targets ENaC for degradation. However, it remains uncertain whether this mechanism alone...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.