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Article

Arrhythmogenic mutation-linked defects in ryanodine receptor autoregulation reveal a novel mechanism of Ca2+ release channel dysfunction.

Circulation research - 6 Jan 2006

George Christopher H, Jundi Hala, Walters Nicola, Thomas N Lowri, West Robert R, Lai F Anthony

Abstract excerpt

Arrhythmogenic cardiac ryanodine receptor (RyR2) mutations are associated with stress-induced malignant tachycardia, frequently leading to sudden cardiac death (SCD). The causative mechanisms of RyR2 Ca2+ release dysregulation are complex and remain controversial. We investigated the functional impact of clinically-severe RyR2 mutations occurring in the central domain, and the C-terminal I domain, a key locus of...

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Source

Identifiers

PMID: 16339485
DOI: 10.1161/01.RES.0000199296.70534.7c

Genes

SCD

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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