Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease
Cystin-1 intracellular trafficking and function are regulated by a myristoyl-electrostatic switch mechanism. Cystic kidneys in three individuals with homozygous CYS1 pathogenic variants provide further support that cystin-1 deficiency causes polycystic kidney disease that phenocopies ARPKD.
Authors
- Shelly Soni (ORCID: https://orcid.org/0000-0002-3019-0031)
- Azhaar Ashraf (ORCID: https://orcid.org/0000-0002-7660-9432)
- Lori A. Christ (ORCID: https://orcid.org/0000-0003-0901-2684)
- R. Sandford
- Rudolfo Karl
- Ljubica Caldovic (ORCID: https://orcid.org/0000-0002-9140-5585)
- Anthony M. Laucevicius
- Natalie Burrill (ORCID: https://orcid.org/0000-0002-6046-5999)
- Jenna Clements
- Lisa Selkirk
- Avni Santani (ORCID: https://orcid.org/0000-0003-2871-4307)
- Jill J. Savla (ORCID: https://orcid.org/0000-0001-5639-9119)
- Zsuzsanna Bebök (ORCID: https://orcid.org/0000-0002-6635-7569)
- Jessica A. Radley (ORCID: https://orcid.org/0000-0002-0776-0091)
- Susan L. Furth (ORCID: https://orcid.org/0000-0003-2081-5242)
- Ryne A. Didier (ORCID: https://orcid.org/0000-0002-4970-9905)
- Landon Wilson (ORCID: https://orcid.org/0000-0002-0246-6491)
- Chaozhe Yang (ORCID: https://orcid.org/0000-0002-5388-7173)
- Juliana S. Gebb (ORCID: https://orcid.org/0000-0001-5829-1961)
- Jacob A. Watts
- Dagmar Wachten (ORCID: https://orcid.org/0000-0003-4800-6332)
- Julie S. Moldenhauer
- Naoe Harafuji (ORCID: https://orcid.org/0000-0002-7741-4549)
- I Simonicova
- Binli Tao
- Kathy Mann
- Erum A. Hartung
- Kalyn Price
- Claire Moran
- Edward Oliver
Institutions
- Boston Children's Hospital (US)
- Children's Hospital of Philadelphia (US)
- Children's National (US)
- University of Bonn (DE)
- George Washington University (US)
- University of Cambridge (GB)
- Luton and Dunstable Hospital (GB)
- Cambridge University Hospitals NHS Foundation Trust (GB)
- University of Alabama at Birmingham (US)
- Wessex Regional Genetics Laboratory (GB)
- Veritas (United States) (US)
Publication Details
- Journal
- Kidney International
- Published
- 2026-02-01
- DOI
- https://doi.org/10.1016/j.kint.2026.01.023
- Primary Topic
- Genetic and Kidney Cyst Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00