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Article

XDH-1 inactivation causes xanthine stone formation in Caenorhabditis elegans which is inhibited by SULP-4-mediated anion exchange in the excretory cell.

PLoS biology - 1 Sept 2025

Snoozy Jennifer, Bhattacharya Sushila, Johnson Brandon, Fettig Robin R, Van Asma Ashley, Brede Chloe, Miller Sophia G, Ralle Martina, Warnhoff Kurt

Abstract excerpt

Xanthine dehydrogenase (XDH) is a molybdenum cofactor (Moco) requiring enzyme that catabolizes hypoxanthine into xanthine and xanthine into uric acid, the final steps in purine catabolism. Human patients with mutations in XDH develop xanthinuria which can lead to xanthine stones in the kidney, recurrent urinary tract infections, and renal failure. Currently, there are no therapies for treating human XDH...

Read the complete abstract on PubMed

Topics

Animals
Caenorhabditis elegans
Xanthine Dehydrogenase
Xanthine
Caenorhabditis elegans Proteins

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Humans

Uric Acid

Mutation

Disease Models, Animal

Source

Open in PubMed Open full text

Identifiers

PMID: 40991662
DOI: 10.1371/journal.pbio.3003410
PMCID: PMC12479013

Genes

XDH

Provenance

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