Polycystic kidney disease: Pathogenic missense mutations result in defective trafficking of polycystin-1 to cilia

Nature Reviews Nephrology 11, 4 (2015). doi:10.1038/nrneph.2014.222 Author: Jessica K. Edwards A new study suggests that missense variants in PKD1 contribute to the pathogenesis of autosomal dominant polycystic kidney disease (ADPKD) through altered G-protein site (GPS) cleavage and aberrant cilial expression of its protein product polycystin-1. The way in which these missense mutations promote disease
Source: Nature Reviews Nephrology - Category: Urology & Nephrology Authors: Tags: Research Highlight Source Type: research