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• W2017292767 abstract "Ryanodine receptor (RyR) is the Ca(2+)-induced Ca(2+) release channel in cells. RyR1 and RyR2 are its isoforms expressed in the skeletal and cardiac muscles, respectively. Their missense mutations, which are clustered in three regions that correspond to each other, cause hereditary disorders such as malignant hyperthermia and central core disease in skeletal muscle and catecholaminergic polymorphic ventricular tachycardia in cardiac muscle. Their pathogeneses, however, are not well understood. The following hypotheses are favorably discussed in this article: phenotypes with RyR1 and RyR2 mutations are mainly caused by dysregulations of their functions through the interdomain interaction and luminal Ca(2+), respectively." @default.
• W2017292767 created "2016-06-24" @default.
• W2017292767 creator A5002974385 @default.
• W2017292767 date "2008-04-01" @default.
• W2017292767 modified "2023-09-26" @default.
• W2017292767 title "Distinct mechanisms for dysfunctions of mutated ryanodine receptor isoforms" @default.
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• W2017292767 doi "https://doi.org/10.1016/j.bbrc.2007.11.139" @default.
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