ADPKD-Causing Missense Variants in Polycystin-1 Disrupt Cell Surface Localization or Polycystin Channel Function
K. Ha, G. B. Loeb, M. Park, M. Gupta, Y. Akiyama, J. Argiris, A. Pinedo, C. H. Park, N. Brandes, F. Ritu, C. J. Ye, J. F. Reiter, M. Delling
This study classifies ADPKD-causing missense variants in polycystin-1 into two categories based on their effects on cell surface localization or ion channel function and suggests small-molecule therapies.
bioRxiv · Dec 4, 2023Cell Biology