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Article

Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

International journal of molecular sciences - 16 Dec 2021

Badone Beatrice, Ronchi Carlotta, Lodola Francesco, Knaust Anika E, Hansen Arne, Eschenhagen Thomas, Zaza Antonio

Abstract excerpt

Phospholamban (PLN) is the natural inhibitor of the sarco/endoplasmic reticulum Ca2+ ATP-ase (SERCA2a). Heterozygous PLN p.Arg14del mutation is associated with an arrhythmogenic dilated cardiomyopathy (DCM), whose pathogenesis has been attributed to SERCA2a "superinhibition". AIM: To test in cardiomyocytes (hiPSC-CMs) derived from a PLN p.Arg14del carrier whether (1) Ca2+ dynamics and protein localization were...

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Identifiers

PMID: 34948294
DOI: 10.3390/ijms222413500
PMCID: PMC8709382

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