Article
A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.
Proceedings of the National Academy of Sciences of the United States of America - 6 Jun 1995
Schild L, Canessa C M, Shimkets R A, Gautschi I, Lifton R P, Rossier B C
Abstract excerpt
We have studied the functional consequences of a mutation in the epithelial Na+ channel that causes a heritable form of salt-sensitive hypertension, Liddle disease. This mutation, identified in the original kindred described by Liddle, introduces a premature stop codon in the channel beta subunit, resulting in a deletion of almost all of the C terminus of the encoded protein. Coexpression of the mutant beta...
Topics
- Amiloride
- Animals
- Epithelium
- Hypertension
- Mutation
- Oocytes
- Sequence Deletion
- Sodium Channels
- Xenopus laevis