| http://purl.uniprot.org/citations/22198169 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22198169 | http://www.w3.org/2000/01/rdf-schema#comment | "Calsequestrin is the most abundant Ca-binding protein of the specialized endoplasmic reticulum found in muscle, the sarcoplasmic reticulum (SR). Calsequestrin binds Ca with high capacity and low affinity and importantly contributes to the mobilization of Ca during each contraction both in skeletal and cardiac muscle. Surprisingly, mutations in the gene encoding the cardiac isoform of calsequestrin (Casq2) have been associated with an inherited form of ventricular arrhythmia triggered by emotional or physical stress termed catecholaminergic polymorphic ventricular tachycardia (CPVT). Despite normal cardiac contractility and normal resting ECG, CPVT patients present with a high risk of sudden death at a young age. Here, we review recent new insights regarding the role of calsequestrin in genetic and acquired arrhythmia disorders. Mouse models of CPVT have shed light on the pathophysiological mechanism underlying CPVT. Casq2 is not only a Ca-storing protein as initially hypothesized, but it has a far more complex function in Ca handling and regulating SR Ca release channels. The functional importance of Casq2 interactions with other SR proteins and the importance of alterations in Casq2 trafficking are also being investigated. Reports of altered Casq2 trafficking in animal models of acquired heart diseases such as heart failure suggest that Casq2 may contribute to arrhythmia risk beyond genetic forms of Casq2 dysfunction."xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.org/dc/terms/identifier | "doi:10.1152/ajpheart.00779.2011"xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/author | "Knollmann B.C."xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/author | "Faggioni M."xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/name | "Am J Physiol Heart Circ Physiol"xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/pages | "H1250-60"xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/title | "Calsequestrin 2 and arrhythmias."xsd:string |
| http://purl.uniprot.org/citations/22198169 | http://purl.uniprot.org/core/volume | "302"xsd:string |
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