Study of DDR/PARP1 signaling in the pathogenesis and treatment of soft tissue mineralization, using pseudoxanthoma elasticum as a model. Ghent University
DNA damage response (DDR) mechanisms - in particular PARP1 signaling - are suggested to be important in the emergence of soft tissue mineralization (STM). A hallmark STM disorder is pseudoxanthoma elasticum (PXE), caused by mutations in the liver transporter ABCC6, with a complex and incompletely understood pathogenesis. Several dysregulated mediators in PXE show remarkable resemblance with PARP1 signaling cascades; our preliminary data show ...