Article
Disruption of Polycystin Ciliary Localization and Channel Function by Autosomal Dominant Polycystic Kidney Disease-Causing Polycystin-1 Variants.
Journal of the American Society of Nephrology : JASN - 1 Aug 2026
Ha Kotdaji, Loeb Gabriel B, Park Meyeon, Gupta Mohona, Akiyama Yukako, Argiris Jillian, Pinedo Aide, Park Christine Haewon, Brandes Nadav, Ritu Fnu, Ye Chun Jimmie, Coyote-Maestas Willow, Reiter Jeremy F, Delling Markus
Abstract excerpt
KEY POINTS: We developed assays to measure genetic variant effects on polycystin-1, the protein mutated in most autosomal dominant polycystic kidney disease. All tested pathogenic variants disrupted either polycystin-1 ciliary trafficking or channel function. Trafficking and channel function of some pathogenic variants was restored by low temperature culture to promote polycystin folding. BACKGROUND: Autosomal...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.