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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 we show that wild-type ENaC is downregulated by intracellular Na+, and that Liddle mutants decrease the channel...

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Identifiers

PMID: 9637708
DOI: 10.1172/JCI2837
PMCID: PMC508865

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

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Mutations causing Liddle syndrome reduce sodium-dependent downregulation of the epithelial sodium channel in the Xenopus oocyte expression system.PMID 9637708Read ↗

A mutation in the epithelial sodium channel causing Liddle disease increases channel activity in the Xenopus laevis oocyte expression system.Semantic proximity Read ↗

Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin.Semantic proximity Read ↗

Liddle's syndrome: genetics and mechanisms of Na+ channel defects.Semantic proximity Read ↗

Mechanism by which Liddle's syndrome mutations increase activity of a human epithelial Na+ channelSemantic proximity Read ↗

Conservation of pH sensitivity in the epithelial sodium channel (ENaC) with Liddle's syndrome mutation.Semantic proximity Read ↗

Defective regulation of the epithelial Na+ channel by Nedd4 in Liddle's syndrome.Semantic proximity Read ↗

Liddle disease caused by a missense mutation of beta subunit of the epithelial sodium channel gene.Semantic proximity Read ↗

A Missense Mutation in the Extracellular Domain of αENaC Causes Liddle SyndromeSemantic proximity Read ↗

WNK4 regulates activity of the epithelial Na+ channel in vitro and in vivo.Semantic proximity Read ↗

Liddle syndrome: genetics and mechanisms of Na+ channel defects.Semantic proximity Read ↗

Novel determinants of epithelial sodium channel gating within extracellular thumb domains.Semantic proximity Read ↗

The PY motif of ENaC, mutated in Liddle syndrome, regulates channel internalization, sorting and mobilization from subapical pool.Semantic proximity Read ↗

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