Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation
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DOI: 10.15252/emmm.202013074
Abstract: The phospholamban (PLN) p.Arg14del mutation causes dilated cardiomyopathy, with the molecular disease mechanisms incompletely understood. Patient dermal fibroblasts were reprogrammed to hiPSC, isogenic controls were established by CRISPR/Cas9, and cardiomyocytes were differentiated. Mutant cardiomyocytes revealed… read more here.
Keywords: mitochondria compartment; arg14del; pln arg14del; arg14del mutation ... See more keywords
Characterization of the PLN p.Arg14del Mutation in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.
Sign Up to like & getrecommendations! Published in 2021 at "International journal of molecular sciences"
DOI: 10.3390/ijms222413500
Abstract: 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… read more here.
Keywords: arg14del mutation; serca2a; pln arg14del;