{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Vafiadaki E"],"funding":["CURE-PLaN, a grant from the Leducq Foundation for Cardiovascular Research"],"pagination":["1162205"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC10151546"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["10"],"pubmed_abstract":["Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is characterized by life-threatening ventricular arrhythmias and sudden cardiac death. Mutations in multiple genes with diverse functions have been reported to date including phospholamban (PLN), a key regulator of sarcoplasmic reticulum (SR) Ca<sup>2+</sup> homeostasis and cardiac contractility. The PLN-R14del variant in specific is recognized as the cause in an increasing number of patients worldwide, and extensive investigations have enabled rapid advances towards the delineation of PLN-R14del disease pathogenesis and discovery of an effective treatment. We provide a critical overview of current knowledge on PLN-R14del disease pathophysiology, including clinical, animal model, cellular and biochemical stu"],"journal":["Frontiers in cardiovascular medicine"],"pubmed_title":["Phospholamban R14del disease: The past, the present and the future."],"pmcid":["PMC10151546"],"funding_grant_id":["18CVD01"],"pubmed_authors":["Vafiadaki E","Sanoudou D","Doevendans PA","Kranias EG","Glijnis PC"],"additional_accession":[]},"is_claimable":false,"name":"Phospholamban R14del disease: The past, the present and the future.","description":"Arrhythmogenic cardiomyopathy affects significant number of patients worldwide and is characterized by life-threatening ventricular arrhythmias and sudden cardiac death. Mutations in multiple genes with diverse functions have been reported to date including phospholamban (PLN), a key regulator of sarcoplasmic reticulum (SR) Ca<sup>2+</sup> homeostasis and cardiac contractility. The PLN-R14del variant in specific is recognized as the cause in an increasing number of patients worldwide, and extensive investigations have enabled rapid advances towards the delineation of PLN-R14del disease pathogenesis and discovery of an effective treatment. We provide a critical overview of current knowledge on PLN-R14del disease pathophysiology, including clinical, animal model, cellular and biochemical stu","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023","modification":"2025-04-04T10:20:16.721Z","creation":"2025-02-19T00:12:23.732Z"},"accession":"S-EPMC10151546","cross_references":{"pubmed":["37144056"],"doi":["10.3389/fcvm.2023.1162205"]}}