Ursula M. Schlötzer-Schrehardt

This study uses R405W desmin knock-in mice to identify mitochondrial dysfunction, protein quality control issues, and myofibrillar structural changes in myofibrillar myopathy.

This study identifies impaired autophagic flux in skeletal muscle of EBS-MD patients and plectin-deficient models, linking it to protein aggregation pathology.

This study identifies gene expression changes linked to exfoliation syndrome using TWAS and finds enrichment for inflammatory genes, suggesting inflammation's role in the disease.

The paper investigates harmonin expression and localization in human retinas to understand USH1C pathophysiology and potential gene therapy approaches.