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Article

Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.

Nature communications - 1 Jan 2013

Kimlicka Lynn, Lau Kelvin, Tung Ching-Chieh, Van Petegem Filip

Abstract excerpt

Ryanodine receptors are large channels that release Ca(2+) from the endoplasmic and sarcoplasmic reticulum. Hundreds of RyR mutations can cause cardiac and skeletal muscle disorders, yet detailed mechanisms explaining their effects have been lacking. Here we compare pseudo-atomic models and propose that channel opening coincides with widening of a cytoplasmic vestibule formed by the N-terminal region, thus...

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Identifiers

PMID: 23422674
DOI: 10.1038/ncomms2501
PMCID: PMC3586727

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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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Disease mutations in the ryanodine receptor N-terminal region couple to a mobile intersubunit interface.PMID 23422674Read ↗

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Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM.Semantic proximity Read ↗

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