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

ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.

Biophysical journal - 1 Jun 2008

Koop Andrea, Goldmann Petra, Chen S R Wayne, Thieleczek Rolf, Varsányi Magdolna

Abstract excerpt

Two single-nucleotide polymorphisms in the type 2 ryanodine receptor (RyR2) leading to the nonsynonymous amino acid replacements G1885E and G1886S are associated with arrhythmogenic right ventricular cardiomyopathy in patients who are carrying both of the corresponding RyR2 alleles. The functiona...

Read the complete abstract on PubMed

Topics

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

Share to Calcium
Share to Calcium Signaling
Share to Cell Line

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney

Share to Myocytes, Cardiac

Share to Ryanodine Receptor Calcium Release Channel

Share to Structure-Activity Relationship

Source

Open in PubMed Open full text

Identifiers

PMID: 18326664
DOI: 10.1529/biophysj.107.122382
PMCID: PMC2397357

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18326664-2026-09-02.2. 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

ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.PMID 18326664Read ↗

RYR2-ryanodinopathies: from calcium overload to calcium deficiency.Semantic proximity Read ↗

Sarcoplasmic Reticulum Ca2+ Dysregulation in the Pathophysiology of Inherited Arrhythmia: An Update.Semantic proximity Read ↗

Arrhythmogenic mechanisms in ryanodine receptor channelopathies.Semantic proximity Read ↗

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.Semantic proximity Read ↗

Ryanodine receptor-mediated arrhythmias and sudden cardiac death.Semantic proximity Read ↗

Enhanced store overload-induced Ca2+ release and channel sensitivity to luminal Ca2+ activation are common defects of RyR2 mutations linked to ventricular tachycardia and sudden death.Semantic proximity Read ↗

Therapeutic Approaches of Ryanodine Receptor-Associated Heart Diseases.Semantic proximity Read ↗

Loss of luminal Ca <sup>2+</sup> activation in the cardiac ryanodine receptor is associated with ventricular fibrillation and sudden deathSemantic proximity Read ↗

The cardiac ryanodine receptor (RyR2) and its role in heart disease.Semantic proximity Read ↗

Ryanodine receptors and ventricular arrhythmias: emerging trends in mutations, mechanisms and therapies.Semantic proximity Read ↗

Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.Semantic proximity Read ↗

Novel RyR2 Mutation (G3118R) Is Associated With Autosomal Recessive Ventricular Fibrillation and Sudden Death: Clinical, Functional, and Computational Analysis.Semantic proximity Read ↗

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