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.

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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
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article

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease

Shelly Soni, Azhaar Ashraf, Lori A. Christ, R. Sandford et al.
Kidney International
Genetic and Kidney Cyst Diseases
article

Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease

Shelly Soni, Azhaar Ashraf, Lori A. Christ, R. Sandford, Rudolfo Karl, Ljubica Caldovic, Anthony M. Laucevicius, Natalie Burrill, Jenna Clements, Lisa Selkirk, Avni Santani, Jill J. Savla, Zsuzsanna Bebök, Jessica A. Radley, Susan L. Furth, Ryne A. Didier, Landon Wilson, Chaozhe Yang, Juliana S. Gebb, Jacob A. Watts, Dagmar Wachten, Julie S. Moldenhauer, Naoe Harafuji, I Simonicova, Binli Tao, Kathy Mann, Erum A. Hartung, Kalyn Price, Claire Moran, Edward Oliver
article en

Abstract

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.

Kidney International
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)
Openalex Percentile: Top 49%
Genetic and Kidney Cyst Diseases
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