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Article

RBM20 variants disrupt Ca2+ handling and metabolism in dilated and non-compaction cardiomyopathy stem cell models.

Signal transduction and targeted therapy - 14 Jul 2026

Rebs Sabine, Sedaghat-Hamedani Farbod, Kayvanpour Elham, Eberl Hanna, Berečić Branimir, Dudek Jan, Wagensohner Nicole, Seedorf Aylin, Unsöld Julia K, Hübscher Daniela, Reich Christoph, Klein Teresa, Doose Sören, Nikolaev Viacheslav O, Buchwald Tjark, Wagdi Ahmed, Kohlhaas Michael, Dybkova Nataliya, Morais Costa Patricia, Guan Kaomei, Hasenfuss Gerd, Rog-Zielinska Eva A, Sossalla Samuel, Sauer Markus, Maack Christoph, Tiburcy Malte, Meder Benjamin, Streckfuss-Bömeke Katrin

Abstract excerpt

Mutations in the splice-regulator RBM20 cause heart failure with reduced ejection fraction (HFrEF), typically manifesting as dilated cardiomyopathy (DCM). Mutations at position 634 in the RS-domain cause DCM with (R634L) or without (R634W) left ventricular non-compaction (LVNC). However, the mechanisms underlying phenotype variability and personalized therapy beyond HFrEF remain unclear. We generated induced...

Topics

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Calcium
Cardiomyopathy, Dilated
Connectin
Induced Pluripotent Stem Cells

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Myocytes, Cardiac

RNA-Binding Proteins

Ryanodine Receptor Calcium Release Channel

Sarcoplasmic Reticulum

Source

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Identifiers

PMID: 42443149
DOI: 10.1038/s41392-026-02838-7
PMCID: PMC13365226

Genes

RBM20
CAMK2D
AIP
PLN
RYR2
TTN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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RBM20 variants disrupt Ca2+ handling and metabolism in dilated and non-compaction cardiomyopathy stem cell models.PMID 42443149Read ↗

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