Jan Fritz Gummert

The DES-p.A120P mutation associated with biventricular arrhythmogenic cardiomyopathy has a dominant-negative effect on desmin filament assembly

The paper functionally characterizes the DES-p.A120P mutation in desmin, showing it disrupts filament assembly even when co-expressed with wild-type desmin, supporting its classification as a pathogenic variant.

Spatial multi-omic map of human myocardial infarction

This study generates a high-resolution spatial multi-omic map of human myocardial infarction by integrating single-cell gene expression, chromatin accessibility, and spatial transcriptomic data to reveal cellular zones of injury, repair, and remodeling.