Project Summary
P19 proposes detailed investigations of Fabry disease (FD), a monogenic lysosomal storage disorder affecting the kidney. Using a combination of organoids grown from patient-derived primary cells, several in vitro models to investigate defective lysosomal and mitochondrial signaling networks, as well as a recently established rat model, they will test the hypothesis that deleterious effects of FD extend beyond the lysosome to impaired metabolic functions involving mitochondria, and that this may represent a common theme shared with other monogenic metabolic diseases of the kidney such as methylmalonic acidemia.
