PKD1 upstream open reading frames affect Polycystin-1 expression and polycystic kidney disease phenotypes.

Abstract excerpt

Autosomal dominant polycystic kidney disease (ADPKD) accounts for 5%-10% of prevalent end-stage kidney failure (ESKD). ADPKD cysts result from a loss of sufficient functional expression of PKD1/Polycystin-1 (PC1) in approximately 80% of families. Kidney disease severity correlates with the extent to which PC1 dosage is reduced below a critical level, and evidence suggests therapeutic benefit from increasing PC1...

Topics

• Animals
• TRPP Cation Channels
• Mice
• Humans
• Polycystic Kidney, Autosomal Dominant
• Open Reading Frames