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Article

A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking Deficiency

1 Dec 2002

Abstract excerpt

The congenital long QT syndrome is a cardiac disease characterized by an increased susceptibility to ventricular arrhythmias. The clinical hallmark is a prolongation of the QT interval, which reflects a delay in repolarization caused by mutations in cardiac ion channel genes. Mutations in the HERG (human ether-à-go-go-related gene KCNH2 can cause a reduction in I(Kr), one of the currents responsible for cardiac...

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PMID: 12354768
DOI: 10.1074/jbc.m206569200

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Related research

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A Novel Mutation (T65P) in the PAS Domain of the Human Potassium Channel HERG Results in the Long QT Syndrome by Trafficking DeficiencyPMID 12354768Read ↗

The mutation L69P in the PAS domain of the hERG potassium channel results in LQTS by trafficking deficiency.Semantic proximity Read ↗

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Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.Semantic proximity Read ↗

Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndromeSemantic proximity Read ↗

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