| http://purl.uniprot.org/citations/12919952 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/12919952 | http://www.w3.org/2000/01/rdf-schema#comment | "Ca2+ release from the sarcoplasmic reticulum mediated by the cardiac ryanodine receptor (RyR2) is a fundamental event in cardiac muscle contraction. RyR2 mutations suggested to cause defective Ca2+ channel function have recently been identified in catecholaminergic polymorphic ventricular tachycardia (CPVT) and arrhythmogenic right ventricular dysplasia (ARVD) affected individuals. We report expression of three CPVT-linked human RyR2 (hRyR2) mutations (S2246L, N4104K, and R4497C) in HL-1 cardiomyocytes displaying correct targeting to the endoplasmic reticulum. N4104K also localized to the Golgi apparatus. Phenotypic characteristics including intracellular Ca2+ handling, proliferation, viability, RyR2:FKBP12.6 interaction, and beat rate in resting HL-1 cells expressing mutant hRyR2 were indistinguishable from wild-type (WT) hRyR2. However, Ca2+ release was augmented in cells expressing mutant hRyR2 after RyR activation (caffeine and 4-chloro-m-cresol) or beta-adrenergic stimulation (isoproterenol). RyR2:FKBP12.6 interaction remained intact after caffeine or 4-CMC activation, but was dramatically disrupted by isoproterenol or forskolin, an activator of adenylate cyclase. Isoproterenol and forskolin elevated cyclic-AMP to similar magnitudes in all cells and were associated with equivalent hyperphosphorylation of mutant and WT hRyR2. CPVT-linked mutations in hRyR2 did not alter resting cardiomyocyte phenotype but mediated augmented Ca2+ release on RyR-agonist or beta-AR stimulation. Furthermore, equivalent interaction between mutant and WT hRyR2 and FKBP12.6 was demonstrated."xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.org/dc/terms/identifier | "doi:10.1161/01.res.0000091335.07574.86"xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/author | "Lai F.A."xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/author | "George C.H."xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/author | "Higgs G.V."xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/date | "2003"xsd:gYear |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/name | "Circ Res"xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/pages | "531-540"xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/title | "Ryanodine receptor mutations associated with stress-induced ventricular tachycardia mediate increased calcium release in stimulated cardiomyocytes."xsd:string |
| http://purl.uniprot.org/citations/12919952 | http://purl.uniprot.org/core/volume | "93"xsd:string |
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