Journal
JOURNAL OF BIOLOGICAL CHEMISTRY
Volume 287, Issue 38, Pages 31624-31632Publisher
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI: 10.1074/jbc.R112.349068
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Funding
- Heart and Stroke Foundation of BC Yukon (HSFBCY)
- Canadian Institutes of Health Research (CIHR) New Investigator
- Michael Smith Foundation for Health Research (MSFHR) Career Investigator
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Ryanodine receptors (RyRs) are huge ion channels that are responsible for the release of Ca2+ from the sarco/endoplasmic reticulum. RyRs form homotetramers with a mushroom-like shape, consisting of a large cytoplasmic head and transmembrane stalk. Ca2+ is a major physiological ligand that triggers opening of RyRs, but a plethora of modulatory proteins and small molecules in the cytoplasm and sarco/endoplasmic reticulum lumen have been recognized. Over 300 mutations in RyRs are associated with severe skeletal muscle disorders or triggered cardiac arrhythmias. With the advent of high-resolution structures of individual domains, many of these can be mapped onto the three-dimensional structure.
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