This proposal addresses the fundamental effect of ADPKD-causing variants on ciliary PKD2 ion channels, which has eluded researchers for the past 18 years. We have developed novel tools to study heterologous and native cilia channels –which yield quantifiable results, in real-time, and at super resolution¬– thereby providing the most accurate description of ADPKD variants in PKD2. These results will firmly establish ADPKD not only as a “ciliopathy” but also as a “channelopathy” (a disease caused by an ion channel), where cystic pathology is controlled by aberrant Ca2+ signaling from the cilium.
|Effective start/end date||9/17/18 → 8/31/19|
- National Institute of Diabetes and Digestive and Kidney Diseases (1R56DK119709-01)