Cell BiologyJournal of the American Society of NephrologyPeer-reviewed
ADPKD-Causing Missense Variants in Polycystin-1 Disrupt Cell Surface Localization or Polycystin Channel Function
Kotdaji Ha, Gabriel B. Loeb, Meyeon Park…·Markus 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.
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