Molecular mechanism of the severe MH/CCD mutation Y522S in skeletal ryanodine receptor (RyR1) by cryo-EM
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DOI: 10.1073/pnas.2122140119
Abstract: Significance Skeletal muscle contraction is governed by ryanodine receptor 1 (RyR1) channels. Ryanodine receptors (RyRs) are the largest ion channels known, with multiple interconnected regulatory domains. Single point mutations of RyRs cause life-threatening diseases, and… read more here.
Keywords: receptor ryr1; ryanodine receptor; ryr1; mutation ... See more keywords