Article
The amino-terminal disease hotspot of ryanodine receptors forms a cytoplasmic vestibule.
Nature - 25 Nov 2010
Tung Ching-Chieh, Lobo Paolo A, Kimlicka Lynn, Van Petegem Filip
Abstract excerpt
Many physiological events require transient increases in cytosolic Ca(2+) concentrations. Ryanodine receptors (RyRs) are ion channels that govern the release of Ca(2+) from the endoplasmic and sarcoplasmic reticulum. Mutations in RyRs can lead to severe genetic conditions that affect both cardiac and skeletal muscle, but locating the mutated residues in the full-length channel structure has been difficult. Here...
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