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Article

P62-positive aggregates are homogenously distributed in the myocardium and associated with the type of mutation in genetic cardiomyopathy.

Journal of cellular and molecular medicine - 1 Mar 2021

van der Klooster Zoë Joy, Sepehrkhouy Shahrzad, Dooijes Dennis, Te Rijdt Wouter P, Schuiringa Frederique S A M, Lingeman Jolanthe, van Tintelen Johannes Peter, Harakalova Magdalena, Goldschmeding Roel, Suurmeijer Albert J H, Asselbergs Folkert W, Vink Aryan

Abstract excerpt

Genetic cardiomyopathy is caused by mutations in various genes. The accumulation of potentially proteotoxic mutant protein aggregates due to insufficient autophagy is a possible mechanism of disease development. The objective of this study was to investigate the distribution in the myocardium of such aggregates in relation to specific pathogenic genetic mutations in cardiomyopathy hearts. Hearts from 32 genetic...

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Identifiers

PMID: 33605084
DOI: 10.1111/jcmm.16388
PMCID: PMC7957157

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