Articles with "arg14del" as a keyword



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Impairment of the ER/mitochondria compartment in human cardiomyocytes with PLN p.Arg14del mutation

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Published in 2021 at "EMBO Molecular Medicine"

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