Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

doi:10.1093/cvr/cvx006

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

Community

Back to search

Article

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.

Cardiovascular research - 1 Apr 2017

Rocchetti Marcella, Sala Luca, Dreizehnter Lisa, Crotti Lia, Sinnecker Daniel, Mura Manuela, Pane Luna Simona, Altomare Claudia, Torre Eleonora, Mostacciuolo Gaspare, Severi Stefano, Porta Alberto, De Ferrari Gaetano M, George Alfred L, Schwartz Peter J, Gnecchi Massimiliano, Moretti Alessandra, Zaza Antonio

Abstract excerpt

AIMS: Calmodulin (CaM) is a small protein, encoded by three genes (CALM1-3), exerting multiple Ca2+-dependent modulatory roles. A mutation (F142L) affecting only one of the six CALM alleles is associated with long QT syndrome (LQTS) characterized by recurrent cardiac arrests. This phenotypic severity is unexpected from the predicted allelic balance. In this work, the effects of heterozygous CALM1-F142L have been...

Read the complete abstract on PubMed

Topics

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

Share to Adrenergic beta-Agonists

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Calcium-Calmodulin-Dependent Protein Kinase Type 2

Share to Calcium Channel Blockers

Share to Calcium Signaling

Share to Calmodulin

Share to Cardiac Pacing, Artificial

Share to Cellular Reprogramming

Share to Heart Rate

Source

Open in PubMed

Identifiers

PMID: 28158429
DOI: 10.1093/cvr/cvx006

Genes

CALM1

Variants

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

Elucidating arrhythmogenic mechanisms of long-QT syndrome CALM1-F142L mutation in patient-specific induced pluripotent stem cell-derived cardiomyocytes.PMID 28158429Read ↗

Allele-specific ablation rescues electrophysiological abnormalities in a human iPS cell model of long-QT syndrome with a CALM2 mutation.Semantic proximity Read ↗

Long QT Syndrome modelling with cardiomyocytes derived from human-induced pluripotent stem cellsSemantic proximity Read ↗

Spectrum and Prevalence of CALM1 -, CALM2 -, and CALM3 -Encoded Calmodulin Variants in Long QT Syndrome and Functional Characterization of a Novel Long QT Syndrome–Associated Calmodulin Missense Variant, E141GSemantic proximity Read ↗

A Precision Medicine Approach to the Rescue of Function on Malignant Calmodulinopathic Long-QT SyndromeSemantic proximity Read ↗

Calmodulinopathy: A Novel, Life-Threatening Clinical Entity Affecting the YoungSemantic proximity Read ↗

Calmodulinopathy: Functional Effects of CALM Mutations and Their Relationship With Clinical PhenotypesSemantic proximity Read ↗

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.Semantic proximity Read ↗

Arrhythmogenic calmodulin mutations disrupt intracellular cardiomyocyte Ca2+ regulation by distinct mechanisms.Semantic proximity Read ↗

Genetic Mosaicism in CalmodulinopathySemantic proximity Read ↗

Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.Semantic proximity Read ↗

Novel Calmodulin Variant p.E46K Associated With Severe Catecholaminergic Polymorphic Ventricular Tachycardia Produces Robust Arrhythmogenicity in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.Semantic proximity Read ↗

Characterization of the CACNA1C-R518C Missense Mutation in the Pathobiology of Long-QT Syndrome Using Human Induced Pluripotent Stem Cell Cardiomyocytes Shows Action Potential Prolongation and L-Type Calcium Channel PerturbationSemantic proximity Read ↗

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