Ciliary exclusion of Polycystin-2 promotes kidney cystogenesis in an autosomal dominant polycystic kidney disease model

oleh: Rebecca V. Walker, Jennifer L. Keynton, Daniel T. Grimes, Vrinda Sreekumar, Debbie J. Williams, Chris Esapa, Dongsheng Wu, Martin M. Knight, Dominic P. Norris

Format: Article
Diterbitkan: Nature Portfolio 2019-09-01

Deskripsi

The molecular role of ciliary Polycystin-2 (PC2) in cyst formation and polycystic kidney disease (ADKPD) is unclear. Here, the authors identify a PC2 mutant lacking ciliary localisation but with active Ca2+ channel function in mice, that is sufficient to generate an ADPKD phenotype.