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   Articles with "r14del" as a keyword



Impaired autophagy mechanisms associated with phospholamban-R14del disease

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recommendations! Published in 2024 at "Cardiovascular Research"

DOI: 10.1093/cvr/cvae088.106

Abstract: Funding Acknowledgements  Type of funding sources: Foundation. Main funding source(s): Leducq Foundation Phospholamban (PLN) is a key modulator of sarcoplasmic reticulum Ca2+ homeostasis and cardiac contractility. The PLN variant c.40_42delAGA (p.R14del) leads to arrhythmogenic cardiomyopathy… read more here.

Keywords: disease; culture; protein; r14del ... See more keywords

Aberrant PLN-R14del Protein Interactions Intensify SERCA2a Inhibition, Driving Impaired Ca2+ Handling and Arrhythmogenesis

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recommendations! Published in 2022 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms23136947

Abstract: Phospholamban (PLN), a key modulator of Ca2+-homeostasis, inhibits sarcoplasmic reticulum (SR) calcium-ATPase (SERCA2a) and regulates cardiac contractility. The human PLN mutation R14del has been identified in arrhythmogenic cardiomyopathy patients worldwide and is currently extensively investigated.… read more here.

Keywords: inhibition; serca2a; r14del; pln r14del ... See more keywords

Myofilament Alterations Associated with Human R14del-Phospholamban Cardiomyopathy

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recommendations! Published in 2023 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms24032675

Abstract: Phospholamban (PLN) is a major regulator of cardiac contractility, and human mutations in this gene give rise to inherited cardiomyopathies. The deletion of Arginine 14 is the most-prevalent cardiomyopathy-related mutation, and it has been linked… read more here.

Keywords: r14del pln; phospholamban; r14del; myofilament alterations ... See more keywords