A5031288084- Nuclear Structure and Function
- Muscle Physiology and Disorders
- Parvovirus B19 Infection Studies
- Neurogenetic and Muscular Disorders Research
- PARP inhibition in cancer therapy
- Cardiomyopathy and Myosin Studies
University of Wrocław
2019-2025
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene, which encodes nuclear envelope protein emerin. Despite understanding basis of disease, molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress restricted limited availability patient-derived samples; therefore, there an urgent need for human-specific cellular models. In this study, we present generation characterization induced pluripotent stem cell...
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a rare genetic disease caused by mutations in the EMD gene, which encodes nuclear envelope protein emerin. Despite understanding basis of disease, molecular mechanism underlying muscle and cardiac pathogenesis remains elusive. Progress restricted limited availability patient-derived samples, therefore there an urgent need for human-specific cellular models. In this study, we present generation characterization induced pluripotent stem cell...