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Article

The rate-dependent biophysical properties of the LQT1 H258R mutant are counteracted by a dominant negative effect on channel trafficking.

Journal of molecular and cellular cardiology - 1 Jun 2010

Labro Alain J, Boulet Inge R, Timmermans Jean-Pierre, Ottschytsch Natacha, Snyders Dirk J

Abstract excerpt

The long QT syndrome (LQTS) is a cardiac disorder caused by a prolonged ventricular repolarization. The co-assembly of the pore-forming human KCNQ1 alpha-subunits with the modulating hKCNE1 beta-subunits generates I(Ks)in vivo, explaining why mutations in the hKCNQ1 gene underlie the LQT1 form of congenital LQT. Here we describe the functional defects of the LQT1 mutation H258R located in the S4-S5 linker, a...

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Source

Identifiers

PMID: 19913547
DOI: 10.1016/j.yjmcc.2009.10.027

Genes

KCNQ1

Provenance

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.

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