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Article

The phospholamban R14del generates pathogenic aggregates by impairing autophagosome-lysosome fusion.

Cellular and molecular life sciences : CMLS - 11 Nov 2024

Vafiadaki Elizabeth, Kranias Evangelia G, Eliopoulos Aristides G, Sanoudou Despina

Abstract excerpt

Phospholamban (PLN) plays a crucial role in regulating sarcoplasmic reticulum (SR) Ca2+ cycling and cardiac contractility. Mutations within the PLN gene have been detected in patients with cardiomyopathy, with the heterozygous variant c.40_42delAGA (p.R14del) of PLN being the most prevalent. Investigations into the mechanisms underlying the pathology of PLN-R14del have revealed that cardiac cells from affected...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39527246
DOI: 10.1007/s00018-024-05471-1
PMCID: PMC11554986

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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