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- W4366292008 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 2+ 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 studies, as well as diverse therapeutic approaches that are being pursued. The milestones achieved in <20 years, since the discovery of the PLN R14del mutation (2006), serve as a paradigm of international scientific collaboration and patient involvement towards finding a cure." @default.
- W4366292008 created "2023-04-20" @default.
- W4366292008 creator A5039759348 @default.
- W4366292008 creator A5049433365 @default.
- W4366292008 creator A5051983330 @default.
- W4366292008 creator A5059841903 @default.
- W4366292008 creator A5080329479 @default.
- W4366292008 date "2023-04-18" @default.
- W4366292008 modified "2023-10-01" @default.
- W4366292008 title "Phospholamban R14del disease: The past, the present and the future" @default.
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