Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.

Circulation research - 12 Apr 2024

Cruz Francisco M, Macías Álvaro, Moreno-Manuel Ana I, Gutiérrez Lilian K, Vera-Pedrosa María Linarejos, Martínez-Carrascoso Isabel, Sánchez Pérez Patricia, Ruiz Robles Juan Manuel, Bermúdez-Jiménez Francisco J, Díaz-Agustín Aitor, Martínez de Benito Fernando, Arias-Santiago Salvador, Braza-Boils Aitana, Martín-Martínez Mercedes, Gutierrez-Rodríguez Marta, Bernal Juan A, Zorio Esther, Jiménez-Jaimez Juan, Jalife José

Abstract excerpt

BACKGROUND: Andersen-Tawil syndrome type 1 is a rare heritable disease caused by mutations in the gene coding the strong inwardly rectifying K+ channel Kir2.1. The extracellular Cys (cysteine)122-to-Cys154 disulfide bond in the channel structure is crucial for proper folding but has not been associated with correct channel function at the membrane. We evaluated whether a human mutation at the Cys122-to-Cys154...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Andersen Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiac Conduction System Disease

Share to Disulfides

Share to Mutation

Share to Myocytes, Cardiac

Share to Phosphatidylinositols

Source

Open in PubMed Open full text

Identifiers

PMID: 38497220
DOI: 10.1161/CIRCRESAHA.123.323895
PMCID: PMC11009053

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Extracellular Kir2.1C122Y Mutant Upsets Kir2.1-PIP2 Bonds and Is Arrhythmogenic in Andersen-Tawil Syndrome.PMID 38497220Read ↗

Extracellular cysteine disulfide bond break at Cys122 disrupts PIP <sub>2</sub> -dependent Kir2.1 channel function and leads to arrhythmias in 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 ↗

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 ↗

Two critical cysteine residues implicated in disulfide bond formation and proper folding of Kir2.1.Semantic proximity Read ↗

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.Semantic proximity Read ↗

Risk Stratification of Arrhythmogenic Consequences of Andersen-Tawil Syndrome Affecting Kir2.1-PIP2 InteractionsSemantic proximity Read ↗

Atomic-Level Investigation of <i>KCNJ2</i> Mutations Associated with Ventricular Arrhythmic Syndrome PhenotypesSemantic proximity Read ↗

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.Semantic proximity Read ↗

The Kir2.1E299V mutation increases atrial fibrillation vulnerability while protecting the ventricles against arrhythmias in a mouse model of short QT syndrome type 3.Semantic proximity Read ↗

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

Dual Dysfunction of Kir2.1 Underlies Conduction and Excitation-Contraction Coupling Defects Promoting Arrhythmias in a Mouse Model of Andersen-Tawil Syndrome Type 1Semantic proximity Read ↗

Conformational changes at cytoplasmic intersubunit interactions control Kir channel gating.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.