ReviewMetabolites2023
Inborn Errors of Purine Salvage and Catabolism.
Review in Metabolites, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Nucleotide Metabolism in Health and Disease.MedComm · 2026Review
- Analysis of purines and pyrimidines across biospecimens: influence of storage temperature and duration.Scientific reports · 2026Article
- Enterocytes rely on purine biosynthesis/salvage pathway to facilitate dietary fat absorption.Nature communications · 2026Article
- Phenotypic Characterization and Genomic Mining of Uric Acid Catabolism Genes inFoods (Basel, Switzerland) · 2025Article
- Uncovering Proteomic and Biochemical Alterations in Plasma from Lesch-Nyhan Disease Patients.Cellular and molecular neurobiology · 2025Article
- Proteomic Analysis of Mouse Cerebral Cortex Following Experimental Ischemic Stroke: Identifying Novel Biomarkers of Damage and Repair.Cellular and molecular neurobiology · 2025Article
- ATP Metabolism of Astrocytes: Consumption, Regeneration and Restoration.Neurochemical research · 2025Review
- Coapplication of Adenine with Inosine or Guanosine Supports Rapid ATP Restoration by ATP-deprived Cultured Primary Astrocytes.Neurochemical research · 2025Article
- Effects of low-purine diet supplemented with Sida acuta Burm. f. on growth performance, purine deposition, and biomolecules in slow-growing chickens.Animal bioscience · 2025Article
- Interleukin-17A signaling promotes CD8+ T cell cytotoxicity against West Nile virus infection through enhancing PI3K-mTOR-mediated metabolism.PLoS pathogens · 2025Article
- Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.Annals of neurology · 2025Review
- Research on related factors of hyperuricemia in high altitude area migrant population.Frontiers in endocrinology · 2025Article
- ATP Restoration by ATP-Deprived Cultured Primary Astrocytes.Neurochemical research · 2024Article
- Interplay between mTOR and Purine Metabolism Enzymes and Its Relevant Role in Cancer.International journal of molecular sciences · 2024Review
- The prevalence of ADSL (rs3788579) and CYP1A2 (rs17861162) polymorphisms in female breast cancer patients in North-West Iran.Discover oncology · 2024Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Cellular purine nucleotides derive mainly from de novo synthesis or nucleic acid turnover and, only marginally, from dietary intake. They are subjected to catabolism, eventually forming uric acid in humans, while bases and nucleosides may be converted back to nucleotides through the salvage pathways. Inborn errors of the purine salvage pathway and catabolism have been described by several researchers and are usually referred to as rare diseases. Since purine compounds play a fundamental role, it is not surprising that their dysmetabolism is accompanied by devastating symptoms. Nevertheless, some of these manifestations are unexpected and, so far, have no explanation or therapy. Herein, we describe several known inborn errors of purine metabolism, highlighting their unexplained pathological aspects. Our intent is to offer new points of view on this topic and suggest diagnostic tools that may possibly indicate to clinicians that the inborn errors of purine metabolism may not be very rare diseases after all.
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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.