Project Summary
Mutations in NPHPs cause nephronophthisis, the most common hereditary cause of kidney failure in children, but the underlying pathogenic mechanisms are poorly understood. P3 found that the NPHP1-4-8 module is involved in the dynamic regulation of cell polarity and actin organization and will therefore determine how NPHPs control ciliogenesis, cell migration and cloaca formation. In addition, P3 will use gene editing coupled to RNA sequencing to identify signaling pathways that can compensate the loss of NPHP family members.
