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Article

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

American journal of physiology. Renal physiology - 1 Sept 2003

Auberson Muriel, Hoffmann-Pochon Nicole, Vandewalle A, Kellenberger Stephan, Schild Laurent

Abstract excerpt

Liddle's syndrome is a monogenic form of hypertension caused by mutations in the PY motif of the COOH terminus of beta- and gamma-epithelial Na+ channel (ENaC) subunits. These mutations lead to retention of active channels at the cell surface. Because of the critical role of this PY motif in the...

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Identifiers

PMID: 12759227
DOI: 10.1152/ajprenal.00071.2003

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026. Prepared record publication-12759227-2026-09-01.1. Manifest publication-graph-cohort-2026-09-01.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 1 Sept 2026.

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Epithelial Na+ channel mutants causing Liddle's syndrome retain ability to respond to aldosterone and vasopressin.PMID 12759227Read ↗

Liddle’s Syndrome Caused by a Novel Mutation in the Proline-Rich PY Motif of the Epithelial Sodium Channel β-SubunitSemantic proximity Read ↗

Acute downregulation of ENaC by EGF involves the PY motif and putative ERK phosphorylation site.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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Liddle syndrome: genetics and mechanisms of Na+ channel defects.Semantic proximity Read ↗

A de novo missense mutation of the beta subunit of the epithelial sodium channel causes hypertension and Liddle syndrome, identifying a proline-rich segment critical for regulation of channel activity.Semantic proximity Read ↗

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

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A family with Liddle's syndrome caused by a new missense mutation in the beta subunit of the epithelial sodium channel.Semantic proximity Read ↗

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

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