The world's first wiki where authorship really matters (Nature Genetics, 2008). Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts. Search thousands of articles and collaborate with scientists around the globe.

wikigene or wiki gene protein drug chemical gene disease author authorship tracking collaborative publishing evolutionary knowledge reputation system wiki2.0 global collaboration genes proteins drugs chemicals diseases compound
Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Lesch-Nyhan Syndrome

Welcome! If you are familiar with the subject of this article, you can contribute to this open access knowledge base by deleting incorrect information, restructuring or completely rewriting any text. Read more.

Disease relevance of Lesch-Nyhan Syndrome


Psychiatry related information on Lesch-Nyhan Syndrome


High impact information on Lesch-Nyhan Syndrome


Chemical compound and disease context of Lesch-Nyhan Syndrome


Biological context of Lesch-Nyhan Syndrome


Anatomical context of Lesch-Nyhan Syndrome


Gene context of Lesch-Nyhan Syndrome


Analytical, diagnostic and therapeutic context of Lesch-Nyhan Syndrome


  1. Molecular evidence for new mutation at the hprt locus in Lesch-Nyhan patients. Yang, T.P., Patel, P.I., Chinault, A.C., Stout, J.T., Jackson, L.G., Hildebrand, B.M., Caskey, C.T. Nature (1984) [Pubmed]
  2. Naloxone and self-mutilation. Richardson, J.S., Zaleski, W.A. Biol. Psychiatry (1983) [Pubmed]
  3. Hyperechoic medulla of the kidneys. Toyoda, K., Miyamoto, Y., Ida, M., Tada, S., Utsunomiya, M. Radiology. (1989) [Pubmed]
  4. Characterization of the alterations in purine nucleotide metabolism in hypoxanthine-guanine phosphoribosyltransferase-deficient rat neuroma cell line. Zoref-Shani, E., Bromberg, Y., Brosh, S., Sidi, Y., Sperling, O. J. Neurochem. (1993) [Pubmed]
  5. Hypoxanthine impairs morphogenesis and enhances proliferation of a neuroblastoma model of Lesch Nyhan syndrome. Ma, M.H., Stacey, N.C., Connolly, G.P. J. Neurosci. Res. (2001) [Pubmed]
  6. HPRT-APRT-deficient mice are not a model for lesch-nyhan syndrome. Engle, S.J., Womer, D.E., Davies, P.M., Boivin, G., Sahota, A., Simmonds, H.A., Stambrook, P.J., Tischfield, J.A. Hum. Mol. Genet. (1996) [Pubmed]
  7. Special devices as aids in the management of child self-mutilation in the Lesch-Nyhan syndrome. Letts, R.M., Hobson, D.A. Pediatrics (1975) [Pubmed]
  8. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. Ernst, M., Zametkin, A.J., Matochik, J.A., Pascualvaca, D., Jons, P.H., Hardy, K., Hankerson, J.G., Doudet, D.J., Cohen, R.M. N. Engl. J. Med. (1996) [Pubmed]
  9. The crystal structure of human hypoxanthine-guanine phosphoribosyltransferase with bound GMP. Eads, J.C., Scapin, G., Xu, Y., Grubmeyer, C., Sacchettini, J.C. Cell (1994) [Pubmed]
  10. Production of a model for Lesch-Nyhan syndrome in hypoxanthine phosphoribosyltransferase-deficient mice. Wu, C.L., Melton, D.W. Nat. Genet. (1993) [Pubmed]
  11. Biochemical evidence of dysfunction of brain neurotransmitters in the Lesch-Nyhan syndrome. Lloyd, K.G., Hornykiewicz, O., Davidson, L., Shannak, K., Farley, I., Goldstein, M., Shibuya, M., Kelley, W.N., Fox, I.H. N. Engl. J. Med. (1981) [Pubmed]
  12. Lesch-Nyhan syndrome: low dopamine-beta-hydroxylase activity and diminished sympathetic response to stress and posture. Lake, C.R., Ziegler, M.G. Science (1977) [Pubmed]
  13. Phosphoribosylpyrophosphate overproduction, a new metabolic abnormality in the Lesch Nyhan syndrome. Reem, G.H. Science (1975) [Pubmed]
  14. Microencapsulated xanthine oxidase as experimental therapy in Lesch-Nyhan disease. Palmour, R.M., Goodyer, P., Reade, T., Chang, T.M. Lancet (1989) [Pubmed]
  15. Limited value of uric acid to creatinine ratios in estimating uric acid excretion. Wortmann, R.L., Fox, I.H. Ann. Intern. Med. (1980) [Pubmed]
  16. Lesch-Nyhan syndrome: CSF neurotransmitter abnormalities. Silverstein, F.S., Johnston, M.V., Hutchinson, R.J., Edwards, N.L. Neurology (1985) [Pubmed]
  17. Effect of ageing on reactivation of the human X-linked HPRT locus. Migeon, B.R., Axelman, J., Beggs, A.H. Nature (1988) [Pubmed]
  18. Molecular description of a hypoxanthine phosphoribosyltransferase gene deletion in Lesch-Nyhan syndrome. Fuscoe, J.C., Nelsen, A.J. Hum. Mol. Genet. (1994) [Pubmed]
  19. Prenatal diagnosis of Lesch-Nyhan syndrome and some characteristics of hypoxanthine-guanine phosphoribosyltransferase and adenine phosphoribosyltransferase in human tissues and cultivated cells. Shin-Buehring, Y.S., Osang, M., Wirtz, A., Haas, B., Rahm, P., Schaub, J. Pediatr. Res. (1980) [Pubmed]
  20. Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line. Tohyama, J., Nanba, E., Ohno, K. Hum. Genet. (1994) [Pubmed]
  21. A potential animal model for Lesch-Nyhan syndrome through introduction of HPRT mutations into mice. Kuehn, M.R., Bradley, A., Robertson, E.J., Evans, M.J. Nature (1987) [Pubmed]
  22. Phosphoribosylpyrophosphate synthetase is elevated in fibroblasts from patients with the Lesch-Nyhan syndrome. Martin, D.W., Maler, B.A. Science (1976) [Pubmed]
  23. Lesch-Nyhan disease and the basal ganglia. Visser, J.E., Bär, P.R., Jinnah, H.A. Brain Res. Brain Res. Rev. (2000) [Pubmed]
  24. Use of phytohaemagglutinin stimulated lymphocytes to study effects of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency on polynucleotide and protein synthesis in the Lesch-Nyhan syndrome. McKeran, R.O., Watts, R.W. J. Med. Genet. (1976) [Pubmed]
  25. Methotrexate inhibits superoxide production and chemotaxis in neutrophils activated by granulocyte colony-stimulating factor. Okuda, A., Kubota, M., Sawada, M., Koishi, S., Kataoka, A., Bessho, R., Usami, I., Lin, Y.W., Adachi, S., Furusho, K. J. Cell. Physiol. (1996) [Pubmed]
  26. Modeling for Lesch-Nyhan disease by gene targeting in human embryonic stem cells. Urbach, A., Schuldiner, M., Benvenisty, N. Stem Cells (2004) [Pubmed]
  27. GTP cyclohydrolase I feedback regulatory protein-dependent and -independent inhibitors of GTP cyclohydrolase I. Yoneyama, T., Wilson, L.M., Hatakeyama, K. Arch. Biochem. Biophys. (2001) [Pubmed]
  28. Screen for MAOA mutations in target human groups. Schuback, D.E., Mulligan, E.L., Sims, K.B., Tivol, E.A., Greenberg, B.D., Chang, S.F., Yang, S.L., Mau, Y.C., Shen, C.Y., Ho, M.S., Yang, N.H., Butler, M.G., Fink, S., Schwartz, C.E., Berlin, F., Breakefield, X.O., Murphy, D.L., Hsu, Y.P. Am. J. Med. Genet. (1999) [Pubmed]
  29. Measurement of HPRT activity in the human unfertilized oocyte and pre-embryo. Braude, P.R., Monk, M., Pickering, S.J., Cant, A., Johnson, M.H. Prenat. Diagn. (1989) [Pubmed]
  30. Preimplantation diagnosis of deficiency of hypoxanthine phosphoribosyl transferase in a mouse model for Lesch-Nyhan syndrome. Monk, M., Handyside, A., Hardy, K., Whittingham, D. Lancet (1987) [Pubmed]
  31. Kinetic mechanism of human hypoxanthine-guanine phosphoribosyltransferase: rapid phosphoribosyl transfer chemistry. Xu, Y., Eads, J., Sacchettini, J.C., Grubmeyer, C. Biochemistry (1997) [Pubmed]
  32. Lesch-Nyhan syndrome: carrier and prenatal diagnosis. Alford, R.L., Redman, J.B., O'Brien, W.E., Caskey, C.T. Prenat. Diagn. (1995) [Pubmed]
  33. Procedures for microencapsulation of enzymes, cells and genetically engineered microorganisms. Chang, T.M., Prakash, S. Mol. Biotechnol. (2001) [Pubmed]
WikiGenes - Universities