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Reduced levels of dopamine and altered metabolism in brains of HPRT knock-out rats: a new rodent model of Lesch-Nyhan Disease
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 l...
Autores principales: | Meek, Stephen, Thomson, Alison J., Sutherland, Linda, Sharp, Matthew G. F., Thomson, Julie, Bishop, Valerie, Meddle, Simone L., Gloaguen, Yoann, Weidt, Stefan, Singh-Dolt, Karamjit, Buehr, Mia, Brown, Helen K., Gill, Andrew C., Burdon, Tom |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4869022/ https://www.ncbi.nlm.nih.gov/pubmed/27185277 http://dx.doi.org/10.1038/srep25592 |
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