Study of the pathogenesis of arterial tortuosity by using zebrafish as a model organism

The arterial tortuosity syndrome (ATS) is a recessive inherited disorder, mainly characterized by tortuosity of the arteries and caused by mutations in the SLC2A10 gene. We aim to further study the pathogenetic mechanisms in the ATS zebrafish model, that we have established previously. Finally, we will attempt to validate the zebrafish findings in a human model system using cell lines.