Maksymilian Prondzynski

Functional Screening of Kv7.5 Channel Variants Associated with Neuronal Dysfunction

This study functionally characterizes Kv7.5 channel variants, identifying gain- and loss-of-function effects and proposing a z-score classification for pathogenicity.

Dosage-sensitive RBFOX2 autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome

This study shows that RBFOX2 autoregulation is critical for cardiomyocyte differentiation by maturing the transcriptome, and its disruption leads to congenital heart disease.

Programmed electrical stimulation in human iPSC-derived cardiomyocytes reveals mechanisms of lethal arrhythmias in Calcium Release Deficiency Syndrome

This study uses hiPSC-derived cardiomyocytes to model CRDS, showing that programmed electrical stimulation induces arrhythmias through EADs and re-entry, which can be suppressed by flecainide.

Molecular Rewiring in TNNT2-Linked Hypertrophic Cardiomyopathy hiPSC-Derived Cardiomyocytes upon Metabolic Maturation

This study investigates how metabolic maturation affects molecular and metabolic states in hiPSC-derived cardiomyocytes with TNNT2-linked hypertrophic cardiomyopathy, revealing variant-specific disruptions in metabolic pathways and gene regulation.