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Article

Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.

Cardiovascular research - 1 Sept 2007

Decher Niels, Renigunta Vijay, Zuzarte Marylou, Soom Malle, Heinemann Stefan H, Timothy Katherine W, Keating Mark T, Daut Jürgen, Sanguinetti Michael C, Splawski Igor

Abstract excerpt

OBJECTIVE: Andersen syndrome (AS) is a rare genetic disease caused by mutations of the potassium channel Kir2.1 (KCNJ2). We identified two unrelated patients with mutations in the slide helix of Kir2.1 leading to AS. The functional consequences of these two mutations, Y68D and D78Y, were studied...

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Source

Identifiers

PMID: 17568571
DOI: 10.1016/j.cardiores.2007.05.010

Genes

PIP
KCNJ2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-17568571-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

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Research trail→

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Impaired interaction between the slide helix and the C-terminus of Kir2.1: a novel mechanism of Andersen syndrome.PMID 17568571Read ↗

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndromeSemantic proximity Read ↗

Biochemical, biophysical, and structural investigations of two mutants (C154Y and R312H) of the human Kir2.1 channel involved in the Andersen-Tawil syndrome.Semantic proximity Read ↗

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.Semantic proximity Read ↗

Characterization of a novel KCNJ2 sequence variant detected in Andersen-Tawil syndrome patients.Semantic proximity Read ↗

Defective potassium channel Kir2.1 trafficking underlies Andersen-Tawil syndrome.Semantic proximity Read ↗

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Trafficking-competent and trafficking-defective KCNJ2 mutations in Andersen syndrome.Semantic proximity Read ↗

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Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.Semantic proximity Read ↗

PIP2 binding residues of Kir2.1 are common targets of mutations causing Andersen syndrome.Semantic proximity Read ↗

Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.Semantic proximity Read ↗

Andersen mutations of KCNJ2 suppress the native inward rectifier current IK1 in a dominant-negative fashion.Semantic proximity Read ↗

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