Molecular basis of keratinopathies KU Leuven
Biocrystallography, Univerza v Ljubljani, Charles University (Univerzita Karlova)
A range of congenital skin blistering diseases, including the notoriously known epidermolysis bullosa simplex (EBS), are linked to mutations in keratins. These proteins form the intermediate filaments present in the cytoplasm of epithelial cells. Mutations in keratins typically cause skin fragility in a dominant way, causing constant suffering of the affected individuals (“Butterfly Children”). At this moment there is no effective treatment for ...