Pathogenic Variants in the Polycystin Pore Helix Cause Distinct Forms of Channel Dysfunction

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   PKD2   ion channels   cryo-EM   channel dysfunction   protein assembly  

Molecular Mechanism Analysis of ADPKD Pathogenic Variants in Ion Channels – In-depth Interpretation of PNAS 2025 Latest Original Research I. Academic Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is one of the most common monogenic disorders worldwide, affecting millions of individuals. The pat...

Mechanistic Analysis of Channel Dysfunction Caused by Diverse Pathogenic Polycystin Pore Helix Variants

Medicine, Basic Medical Sciences, Nephrology, Life Sciences, Cell Biology, Biochemistry, Genetics, Biophysics,
autosomal dominant polycystic kidney disease   polycystin   channelopathy   ion channel   primary cilia   structure   drug development  

I. Research Background and Scientific Significance Autosomal Dominant Polycystic Kidney Disease (ADPKD) is a common monogenic hereditary kidney disease that affects millions of people worldwide. ADPKD is primarily caused by mutations in the renal polycystin family (especially the PKD1 and PKD2 genes), which encode channel subunits pivotal for ion c...