NIH R01 · 2025
Polycystins, cilia, and extracellular vesicles in C. elegans
Project Summary Autosomal dominant polycystic kidney disease (ADPKD) is a common, life threatening disease that affects 1/400-1/1000. ADPKD is caused by mutations in PKD1 and PKD2, which encode polycystin-1 and polycystin-2 (PC1 and PC2). Remarkably, the function of the polycystins remains enigmatic almost 30 years after their cloning and 20 years after their discovery on renal primary cilia. Besides cilia, PC1 and PC2 are also found in other subcellular locations including extracellular vesicles (EVs). Urinary EVs can be used as biomarkers of renal disease including ADPKD. Whether these polycystin-carrying EVs are of ciliary origin and what role EVs play in healthy and diseased kidneys…
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