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

The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.

The Journal of physiology - 1 Aug 2008

Belus Alexandra, Piroddi Nicoletta, Scellini Beatrice, Tesi Chiara, D'Amati Giulia, Girolami Francesca, Yacoub Magdi, Cecchi Franco, Olivotto Iacopo, Poggesi Corrado

Abstract excerpt

The R403Q mutation in beta-myosin heavy chain was the first mutation to be identified as responsible for familial hypertrophic cardiomyopathy (FHC). In spite of extensive work on the functional sequelae of this mutation, the mechanism by which the mutant protein causes the disease has not been de...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Cardiomyopathy, Hypertrophic, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Gene Expression Regulation

Share to Mutation

Share to Myocardial Contraction

Share to Myofibrils

Share to Tissue Culture Techniques

Share to Ventricular Myosins

Source

Open in PubMed Open full text

Identifiers

PMID: 18565996
DOI: 10.1113/jphysiol.2008.155952
PMCID: PMC2538824

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18565996-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

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

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils.PMID 18565996Read ↗

Cell-intrinsic functional effects of the α-cardiac myosin Arg-403-Gln mutation in familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone.Semantic proximity Read ↗

Molecular mechanisms of altered contraction with the β-myosin R403Q mutation in porcine ventricular muscle and a human stem cell-derived cardiomyocyte model.Semantic proximity Read ↗

Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

A Tension-Based Model Distinguishes Hypertrophic versus Dilated Cardiomyopathy.Semantic proximity Read ↗

Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Molecular mechanisms of altered contraction with the β-myosin R403Q mutation in porcine ventricular muscle and a human stem cell-derived cardiomyocyte modelSemantic proximity Read ↗

Gene transfer of human cardiomyopathy β-MyHC mutant R403Q directly alters intact cardiac myocyte calcium homeostasis and causes hyper-contractilitySemantic proximity Read ↗

Length-dependent hypercontractility decoupled from cellular adaptations is the initial phenotype in MYBPC3-haploinsufficient iPSC-derived engineered cardiac tissuesSemantic proximity Read ↗

Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibitionSemantic proximity Read ↗

Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor functionSemantic proximity Read ↗

Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathySemantic proximity Read ↗

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