{"id":"34b9bbed5cb9","type":"article","url":"https://hartvaat.nl/2026/02/18/verstoring-van-de-cystine-1-myristoyl-elektrostatische-schakelaar-veroorzaakt-po/","title":"Verstoring van de cystine-1 myristoyl-elektrostatische schakelaar veroorzaakt polycysteuze nierziekte","title_en":"Disruption of the human cystin-1 myristoyl-electrostatic switch causes polycystic kidney disease that phenocopies autosomal recessive polycystic kidney disease","category":"chronische nierziekte","category_label":"Nierziekte","professions":["internist"],"tags":[],"journal":"Kidney International","doi":"https://www.kidney-international.org/article/S0085-2538(26)00131-6/fulltext","source_url":"https://doi.org/https://www.kidney-international.org/article/S0085-2538(26)00131-6/fulltext","authors":["Chaozhe Yang","Naoe Harafuji","Jacob A. Watts","Binli Tao","Claire Moran","Jenna Clements","Kalyn Price","Anthony Laucevicius","Natalie Burrill","Juliana Gebb","Shelly Soni","Edward Oliver","Jill J. Savla","Lori Christ","Julie Moldenhauer","Erum A. Hartung","Ryne Didier","Avni Santani","Richard N. Sandford","Lisa Selkirk","Jessica A. Radley","Kathy Mann","Ingrid Simonicova","Rudolfo Karl","Arsila Palliyulla Kariat Ashraf","Dagmar Wachten","Landon Wilson","Zsuzsanna Bebok","Ljubica Caldovic","Lisa M. Guay-Woodford"],"significance":4,"published":"2026-02-18","source_date":"2026-02-18","image":"","kennis":[],"congress":"","summary_en":"This study demonstrates that disruption of the myristoyl-electrostatic switch of human cystin-1 causes polycystic kidney disease phenocopying autosomal recessive PKD, providing mechanistic insight into ciliopathy-related cystogenesis.","created":"2026-07-03T10:25:20Z","updated":"2026-07-03T13:24:46Z","licence":"Citeer vrij, met bronvermelding en een link naar hartvaat.nl (de url van het record). Samenvattingen zijn redactioneel werk van HartVaat; de oorspronkelijke publicaties blijven van hun uitgevers (doi). Geen medisch advies.","body_markdown":"ARPKD wordt voornamelijk veroorzaakt door pathogene varianten in PKHD1. In muizenmodellen bootst een Cys1-mutatie het ARPKD-fenotype na. Dit onderzoek toont dat verstoring van de myristoyl-elektrostatische schakelaar van humaan cystine-1 een vergelijkbaar fenotype veroorzaakt.","abstract_original":"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 variant."}