Article
Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease.
Kidney international - 1 May 2026
Yang Chaozhe, Harafuji Naoe, Watts Jacob A, Tao Binli, Moran Claire, Clements Jenna, Price Kalyn, Laucevicius Anthony, Burrill Natalie, Gebb Juliana, Soni Shelly, Oliver Edward, Savla Jill J, Christ Lori, Moldenhauer Julie, Hartung Erum A, Didier Ryne, Santani Avni, Sandford Richard N, Selkirk Lisa, Radley Jessica A, Mann Kathy, Simonicova Ingrid, Karl Rudolfo, Kariat Ashraf Arsila Palliyulla, Wachten Dagmar, Wilson Landon, Bebok Zsuzsanna, Caldovic Ljubica, Guay-Woodford Lisa M
Abstract excerpt
INTRODUCTION: Autosomal recessive polycystic kidney disease (ARPKD) is caused primarily by pathogenic variants in PKHD1, encoding fibrocystin/polyductin. In Cys1cpk/cpk (cpk) mice, the kidney and liver lesions closely phenocopy ARPKD. Cys1 encodes cystin, a myristoylated protein that traffics to the primary cilium and nucleus. We recently reported the first patient with ARPKD due to a homozygous CYS1 splicing...
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