Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.

doi:10.1172/JCI2837

Back to search

Article

Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.

The Journal of clinical investigation - 15 Jun 1998

Kellenberger S, Gautschi I, Rossier B C, Schild L

Abstract excerpt

Liddle syndrome is an autosomal dominant form of hypertension resulting from deletion or missense mutations of a PPPxY motif in the cytoplasmic COOH terminus of either the beta or gamma subunit of the epithelial Na channel (ENaC). These mutations lead to increased channel activity. In this study...

Topics

Animals
Down-Regulation
Epithelial Cells
Humans
Hypertension
Mutation
Rats
Sodium
Sodium Channels
Transfection
Xenopus

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.