ArticleProceedings of the National Academy of Sciences of the United States of America1996
Adenine phosphoribosyltransferase-deficient mice develop 2,8-dihydroxyadenine nephrolithiasis.
Article in Proceedings of the National Academy of Sciences of the United States of America, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
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Who cites it
36 citing papers in PubMed, 120 citations in OpenAlex.
- Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadeninuria.Pediatric nephrology (Berlin, Germany) · 2026Review
- Adenine phosphoribosyltransferase (APRT) deficiency: an increasingly recognized disease.International urology and nephrology · 2025Review
- The Role of Mitochondrial and Redox Alterations in the Skeletal Myopathy Associated with Chronic Kidney Disease.Antioxidants & redox signaling · 2023Review
- Lack of accelerated ovarian aging in a follicle-stimulating hormone receptor haploinsufficiency model.Translational medicine of aging · 2023Article
- Treatment of Chronic Kidney Disease with Extracellular Vesicles from Mesenchymal Stem Cells and CD133International journal of molecular sciences · 2022Article
- Recurrence of 2,8-dihydroxyadenine Crystalline Nephropathy in a Kidney Transplant Recipient: A Case Report and Literature Review.Internal medicine (Tokyo, Japan) · 2021Review
- Global Proteomic Profile Integrated to Quantitative and Morphometric Assessment of Enteric Neurons: Investigation of the Mechanisms Involved in the Toxicity Induced by Acute Fluoride Exposure in the Duodenum.Neurotoxicity research · 2021Article
- Cellular and Molecular Mechanisms of Kidney Injury in 2,8-Dihydroxyadenine Nephropathy.Journal of the American Society of Nephrology : JASN · 2020Article
- Fish Oil Supplementation Reduces Inflammation but Does Not Restore Renal Function and Klotho Expression in an Adenine-Induced CKD Model.Nutrients · 2018Article
- In-silico gene essentiality analysis of polyamine biosynthesis reveals APRT as a potential target in cancer.Scientific reports · 2017Article
- Cancer Immunotherapy: Whence and Whither.Molecular cancer research : MCR · 2017Review
- Human adipose derived stem cells regress fibrosis in a chronic renal fibrotic model induced by adenine.PloS one · 2017Article
- Administration of α-Galactosylceramide Improves Adenine-Induced Renal Injury.Molecular medicine (Cambridge, Mass.) · 2015Article
- Macrophage trafficking as key mediator of adenine-induced kidney injury.Mediators of inflammation · 2014Article
- Supramolecular polymeric chemosensor for biomedical applications: design and synthesis of a luminescent zinc metallopolymer as a chemosensor for adenine detection.Journal of fluorescence · 2012Article
- Adenine phosphoribosyltransferase deficiency in children.Pediatric nephrology (Berlin, Germany) · 2012Article
- Ionizing radiation is a potent inducer of mitotic recombination in mouse embryonic stem cells.Mutation research · 2011Article
- Marked aneuploidy and loss of multiple chromosomes are common in autosomal mutants isolated from normal mouse kidney epithelium.Genes, chromosomes & cancer · 2011Article
- Article
- 2,8-dihydroxyadenine nephrolithiasis induces developmental stage-specific alterations in gene expression in mouse kidney.Urology · 2010Article
Corrections and comments
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
Abstract
Adenine phosphoribosyltransferase (APRT) deficiency in humans is an autosomal recessive syndrome characterized by the urinary excretion of adenine and the highly insoluble compound 2,8-dihydroxyadenine (DHA) that can produce kidney stones or renal failure. Targeted homologous recombination in embryonic stem cells was used to produce mice that lack APRT. Mice homozygous for a null Aprt allele excrete adenine and DHA crystals in the urine. Renal histopathology showed extensive tubular dilation, inflammation, necrosis, and fibrosis that varied in severity between different mouse backgrounds. Thus, biochemical and histological changes in these mice mimic the human disease and provide a suitable model of human hereditary nephrolithiasis.
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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.