ArticleScientific reports2016
Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease.
Article in Scientific reports, 2016. 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, 34 citations in OpenAlex.
- Changes in Purine Metabolism During Differentiation of Dopamine Neurons from Human Induced Pluripotent Stem Cells.Cellular and molecular neurobiology · 2026Article
- Improved vector toolkit for genome writing in mammalian cells.bioRxiv : the preprint server for biology · 2026Article
- The Role of Purine Metabolism and Uric Acid in Postnatal Neurologic Development.Molecules (Basel, Switzerland) · 2025Review
- Identification of copper metabolism-related markers in Parkinson's disease.Annals of medicine · 2024Article
- Deep postnatal phenotyping of a new mouse model of nonketotic hyperglycinemia.Journal of inherited metabolic disease · 2024Article
- Improving laboratory animal genetic reporting: LAG-R guidelines.Nature communications · 2024Review
- Article
- Red Blood Cells from Individuals with Lesch-Nyhan Syndrome: Multi-Omics Insights into a Novel S162N Mutation Causing Hypoxanthine-Guanine Phosphoribosyltransferase Deficiency.Antioxidants (Basel, Switzerland) · 2023Article
- HGprt deficiency disrupts dopaminergic circuit development in a genetic mouse model of Lesch-Nyhan disease.Cellular and molecular life sciences : CMLS · 2022Article
- Induced pluripotent stem cells from subjects with Lesch-Nyhan disease.Scientific reports · 2021Article
- Article
- Rescuing compounds for Lesch-Nyhan disease identified using stem cell-based phenotypic screening.JCI insight · 2020Article
- Animal Model Contributions to Congenital Metabolic Disease.Advances in experimental medicine and biology · 2020Review
- From engineering to editing the rat genome.Mammalian genome : official journal of the International Mammalian Genome Society · 2017Review
- What Gene Mutations Affect Serotonin in Mice?ACS chemical neuroscience · 2017Article
Corrections and comments
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
Abstract
Lesch-Nyhan disease (LND) is a severe neurological disorder caused by loss-of-function mutations in the gene encoding hypoxanthine phosphoribosyltransferase (HPRT), an enzyme required for efficient recycling of purine nucleotides. Although this biochemical defect reconfigures purine metabolism and leads to elevated levels of the breakdown product urea, it remains unclear exactly how loss of HPRT activity disrupts brain function. As the rat is the preferred rodent experimental model for studying neurobiology and diseases of the brain, we used genetically-modified embryonic stem cells to generate an HPRT knock-out rat. Male HPRT-deficient rats were viable, fertile and displayed normal caged behaviour. However, metabolomic analysis revealed changes in brain biochemistry consistent with disruption of purine recycling and nucleotide metabolism. Broader changes in brain biochemistry were also indicated by increased levels of the core metabolite citrate and reduced levels of lipids and fatty acids. Targeted MS/MS analysis identified reduced levels of dopamine in the brains of HPRT-deficient animals, consistent with deficits noted previously in human LND patients and HPRT knock-out mice. The HPRT-deficient rat therefore provides a new experimental platform for future investigation of how HPRT activity and disruption of purine metabolism affects neural function and behaviour.
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