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Article

Functional defects in hiPSCs-derived cardiomyocytes from patients with a PLEKHM2-mutation associated with dilated cardiomyopathy and left ventricular non-compaction.

Biological research - 23 Jun 2023

Korover Nataly, Etzion Sharon, Cherniak Alexander, Rabinski Tatiana, Levitas Aviva, Etzion Yoram, Ofir Rivka, Parvari Ruti, Cohen Smadar

Abstract excerpt

Dilated cardiomyopathy (DCM) is a primary myocardial disease, leading to heart failure and excessive risk of sudden cardiac death with rather poorly understood pathophysiology. In 2015, Parvari's group identified a recessive mutation in the autophagy regulator, PLEKHM2 gene, in a family with severe recessive DCM and left ventricular non-compaction (LVNC). Fibroblasts isolated from these patients exhibited...

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Identifiers

PMID: 37349842
DOI: 10.1186/s40659-023-00442-5
PMCID: PMC10288792

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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