Björn C. Knollmann

This study shows that RyR2-mediated Ca2+ leak causes arrhythmias and progressive cardiomyopathy in rabbits, identifying RyR2 as a therapeutic target.

This study characterizes the pharmacokinetic properties of ent-verticilide, identifying limited intestinal availability and CYP-mediated metabolism as key factors affecting its oral exposure.

This paper shows that a single copy of the N54I calmodulin mutation in mice causes CPVT-like arrhythmias, demonstrating the functional dominance of mutant calmodulin.

This study links polygenic scores for QT interval to changes in Kv11.1 protein interactions in hiPSC-CMs, revealing connections between genetic variants and endocytic trafficking mechanisms.

The paper redesigns calmodulin to improve its function while preserving conformational dynamics, showing that structural flexibility is essential for physiological regulation.

The paper maps the functional landscape of KCNQ1 variants to identify pathogenic and benign variants, revealing their impact on arrhythmia risk and ion channel mechanisms.

The paper evaluates RYR2-CPVT missense variants using Bayesian penetrance analysis and finds it outperforms existing tools.

The paper introduces EFP-Analyzer, a software tool for analyzing extracellular field potentials from iPSC-derived cardiomyocytes, showing it accurately measures intervals and detects drug or mutation effects.

This study shows that mitochondrial reactive oxygen species contribute to arrhythmias in hypertrophic cardiomyopathy by disrupting calcium handling and electrical conduction.

This paper evaluates how functional variant data and penetrance estimates improve risk stratification for LQTS in KCNH2 missense variant carriers.

The paper identifies proteostasis interactomes of trafficking-deficient KV11.1 variants and shows pharmacological chaperone rescue of proteostasis network alterations in LQTS-associated variants.

This paper introduces a high-throughput method to screen KCNH2 variants for trafficking defects, validating it with multiple assays and showing its utility for identifying loss-of-function variants.