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Article

Early consequences of the phospholamban mutation PLN-R14del+/- in a transgenic mouse model.

Acta physiologica (Oxford, England) - 1 Mar 2024

Maniezzi Claudia, Eskandr Marem, Florindi Chiara, Ferrandi Mara, Barassi Paolo, Sacco Elena, Pasquale Valentina, Maione Angela S, Pompilio Giulio, Teixeira Vivian Oliveira Nunes, de Boer Rudolf A, Silljé Herman H W, Lodola Francesco, Zaza Antonio

Abstract excerpt

AIMS: The heterozygous phospholamban (PLN) mutation R14del (PLN R14del+/- ) is associated with a severe arrhythmogenic cardiomyopathy (ACM) developing in the adult. "Superinhibition" of SERCA2a by PLN R14del is widely assumed to underlie the pathogenesis, but alternative mechanisms such abnormal energy metabolism have also been reported. This work aims to (1) to evaluate Ca2+ dynamics and energy metabolism in a...

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PMID: 38214033
DOI: 10.1111/apha.14082

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