{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Raad N"],"funding":["NIA NIH HHS","NHLBI NIH HHS"],"pagination":["441-454"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8456417"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["144(6)"],"pubmed_abstract":["<h4>Background</h4>Arginine (Arg) 14 deletion (R14del) in the calcium regulatory protein phospholamban (hPLN<sup>R14del</sup>) has been identified as a disease-causing mutation in patients with an inherited cardiomyopathy. Mechanisms underlying the early arrhythmogenic phenotype that predisposes carriers of this mutation to sudden death with no apparent structural remodeling remain unclear.<h4>Methods</h4>To address this, we performed high spatiotemporal resolution optical mapping of intact hearts from adult knock-in mice harboring the human PLN<sup>WT</sup> (wildtype [WT], n=12) or the heterozygous human PLN<sup>R14del</sup> mutation (R14del, n=12) before and after ex vivo challenge with isoproterenol and rapid pacing.<h4>Results</h4>Adverse electrophysiological remodeling was evident in "],"journal":["Circulation"],"pubmed_title":["Arrhythmia Mechanism and Dynamics in a Humanized Mouse Model of Inherited Cardiomyopathy Caused by Phospholamban R14del Mutation."],"pmcid":["PMC8456417"],"funding_grant_id":["R01 HL148008","R01 HL137036","R01 HL149344","R21 AG054211","R01 HL137259","R01 HL131735"],"pubmed_authors":["Bittihn P","Cai CL","Jeong D","Ceholski D","Zhang L","Ilkan Z","Kranias EG","Cacheux M","Akar FG","Raad N","Kohlbrenner E","Stillitano F","Hajjar RJ"],"additional_accession":[]},"is_claimable":false,"name":"Arrhythmia Mechanism and Dynamics in a Humanized Mouse Model of Inherited Cardiomyopathy Caused by Phospholamban R14del Mutation.","description":"<h4>Background</h4>Arginine (Arg) 14 deletion (R14del) in the calcium regulatory protein phospholamban (hPLN<sup>R14del</sup>) has been identified as a disease-causing mutation in patients with an inherited cardiomyopathy. Mechanisms underlying the early arrhythmogenic phenotype that predisposes carriers of this mutation to sudden death with no apparent structural remodeling remain unclear.<h4>Methods</h4>To address this, we performed high spatiotemporal resolution optical mapping of intact hearts from adult knock-in mice harboring the human PLN<sup>WT</sup> (wildtype [WT], n=12) or the heterozygous human PLN<sup>R14del</sup> mutation (R14del, n=12) before and after ex vivo challenge with isoproterenol and rapid pacing.<h4>Results</h4>Adverse electrophysiological remodeling was evident in ","dates":{"release":"2021-01-01T00:00:00Z","publication":"2021 Aug","modification":"2025-04-26T16:27:57.092Z","creation":"2025-02-19T02:26:44.546Z"},"accession":"S-EPMC8456417","cross_references":{"pubmed":["34024116"],"doi":["10.1161/circulationaha.119.043502","10.1161/CIRCULATIONAHA.119.043502"]}}