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

20260 citationsJournal Articlehybrid Open Access

Authors

Chaozhe Yang · Children's National

Naoe Harafuji · Children's National

Jacob A. Watts · Children's National

Binli Tao · University of Alabama at Birmingham

Claire Moran · George Washington University

Jenna Clements · George Washington University

Kalyn Price ·

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.

Topics & Keywords

Genetic and Kidney Cyst Diseases Biomedical Research and Pathophysiology Cystic Fibrosis Research Advances

Publication Details

Published in: Kidney International

DOI: 10.1016/j.kint.2026.01.023

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

Authors

Abstract

Topics & Keywords

Publication Details