Structural mechanism of two gain-of-function cardiac and skeletal RyR mutations at an equivalent site by cryo-EM.
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DOI: 10.1126/sciadv.abb2964
Abstract: Mutations in ryanodine receptors (RyRs), intracellular Ca2+ channels, are associated with deadly disorders. Despite abundant functional studies, the molecular mechanism of RyR malfunction remains elusive. We studied two single-point mutations at an equivalent site in… read more here.
Keywords: mutations equivalent; structural mechanism; site; equivalent site ... See more keywords