Identifying mechanisms of disease variability in soft tissue mineralization disorders, using pseudoxanthoma elasticum as a model Ghent University
This proposal aims to identify mechanisms underlying disease variability in soft tissue mineralization (STM), common in rare and acquired STM disorders. Among them pseudoxanthoma elasticum (PXE), caused by mutations in the liver transporter ABCC6, is a paradigm disorder characterized by multisystemic STM with significant and unexplained variability. Hence we use PXE as a model disease and will focus on its biochemical, clinical and molecular ...