ReviewInternational journal of molecular sciences2012
Mutations associated with functional disorder of xanthine oxidoreductase and hereditary xanthinuria in humans.
Review in International journal of molecular sciences, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers, 1 of them a synthesis that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
45 citing papers in PubMed, 1 synthesis or guideline pooled it, 116 citations in OpenAlex.
- Systematic Overview of Solid Particles and Their Host Responses.Frontiers in immunology · 2018Pooled it
- A nonsense mutation in the Mocos gene induces xanthinuria, obstructive nephropathy, and anemia in rats.Experimental animals · 2026Article
- The hitchhiker's guide to feline xanthinuria.Journal of feline medicine and surgery · 2026Review
- [Long-standing myalgia and hypouricemia in a young woman : Case report and review of the literature].Zeitschrift fur Rheumatologie · 2025Review
- FPAW fromNutrients · 2025Article
- Understanding the clinical genetics of kidney stone disease using the Natera Renasight panel.Urolithiasis · 2025Article
- Human adenovirus serotype 5 infection dysregulates cysteine, purine, and unsaturated fatty acid metabolism in fibroblasts.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Phenolic Compounds fromAntibiotics (Basel, Switzerland) · 2025Review
- Drug-Induced Hypouricemia.Drug safety · 2025Review
- Management of hypertension addressing hyperuricaemia: introduction of nano-based approaches.Annals of medicine · 2024Review
- Potential Opportunities for Pharmacogenetic-Based Therapeutic Exploitation of Xanthine Dehydrogenase in Cardiovascular Disease.Antioxidants (Basel, Switzerland) · 2024Review
- Heterocyclic compounds as xanthine oxidase inhibitors for the management of hyperuricemia: synthetic strategies, structure-activity relationship and molecular docking studies (2018-2024).RSC medicinal chemistry · 2024Review
- Xanthinuria in a familial group of Munchkin cats and an unrelated domestic shorthair cat.Journal of feline medicine and surgery · 2024Article
- Past, present and future of xanthine oxidase inhibitors: design strategies, structural and pharmacological insights, patents and clinical trials.RSC medicinal chemistry · 2023Review
- Emerging Urate-Lowering Drugs and Pharmacologic Treatment Strategies for Gout: A Narrative Review.Drugs · 2023Review
- Hypouricemia with recurrent nephrolithiasis: an overlooked entity: Answers.Pediatric nephrology (Berlin, Germany) · 2023Article
- Exploring the potential function of trace elements in human health: a therapeutic perspective.Molecular and cellular biochemistry · 2023Review
- XDH and XO Research and Drug Discovery-Personal History.Molecules (Basel, Switzerland) · 2023Review
- Bioactivity and Component Analysis of Water Extract ofFoods (Basel, Switzerland) · 2022Article
- Mechanism of reduced muscle atrophy via ketone body (D)-3-hydroxybutyrate.Cell & bioscience · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD+ or O(2). The enzyme is a target of drugs to treat hyperuricemia, gout and reactive oxygen-related diseases. Human diseases associated with genetically determined dysfunction of XOR are termed xanthinuria, because of the excretion of xanthine in urine. Xanthinuria is classified into two subtypes, type I and type II. Type I xanthinuria involves XOR deficiency due to genetic defect of XOR, whereas type II xanthinuria involves dual deficiency of XOR and aldehyde oxidase (AO, a molybdoflavo enzyme similar to XOR) due to genetic defect in the molybdenum cofactor sulfurase. Molybdenum cofactor deficiency is associated with triple deficiency of XOR, AO and sulfite oxidase, due to defective synthesis of molybdopterin, which is a precursor of molybdenum cofactor for all three enzymes. The present review focuses on mutation or chemical modification studies of mammalian XOR, as well as on XOR mutations identified in humans, aimed at understanding the reaction mechanism of XOR and the relevance of mutated XORs as models to estimate the possible side effects of clinical application of XOR inhibitors.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.