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Article

The H29D Mutation Does Not Enhance Cytosolic Ca2+ Activation of the Cardiac Ryanodine Receptor.

PloS one - 1 Jan 2015

Xiao Zhichao, Guo Wenting, Yuen Siobhan M Wong King, Wang Ruiwu, Zhang Lin, Van Petegem Filip, Chen S R Wayne

Abstract excerpt

The N-terminal domain of the cardiac ryanodine receptor (RyR2) harbors a large number of naturally occurring mutations that are associated with stress-induced ventricular tachyarrhythmia and sudden death. Nearly all these disease-associated N-terminal mutations are located at domain interfaces or buried within domains. Mutations at these locations would alter domain-domain interactions or the stability/folding of...

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Identifiers

PMID: 26405799
DOI: 10.1371/journal.pone.0139058
PMCID: PMC4583508

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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.

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