RBM20-variants induce distinct calcium handling and metabolic phenotypes in patient-specific stem cell models of dilated and non-compaction cardiomyopathy
Sabine Rebs, Farbod Sedaghat‐Hamedani, Elham Kayvanpour, Jan Dudek, Branimir Berečić, Hanna Eberl, Daniela Hübscher, Christoph Reich, Teresa Klein, Sören Doose, Viacheslav O. Nikolaev, Kaomei Guan, Gerd P Hasenfuss, Markus Sauer, Malte Tiburcy, , Katrin Streckfuß‐Bömeke
This study compares patient-specific stem cell models of RBM20 mutations causing dilated cardiomyopathy and left ventricular non-compaction, identifying distinct molecular, cellular, and functional impairments.
bioRxiv · Jan 13, 2025 · PreprintMolecular Biology