[1. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O’Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000;463:309 - 26.10.1016/S1383-5742(00)00052-1]Search in Google Scholar
[2. Lesch M and Nyhan WL, 1964 A familial disorder of uric acid metabolism and central nervous system function. Am J Med 36:561-57010.1016/0002-9343(64)90104-4]Open DOISearch in Google Scholar
[3. Jinnah H.A., Visser J.E., Harris J.C., et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 200610.1093/brain/awl056]Open DOISearch in Google Scholar
[4. Nyhan WL. Dopamine function in Lesch-Nyhan disease. Environ Health Perspect. 2000;108(Suppl 3):409 - 11.10.1289/ehp.00108s3409]Search in Google Scholar
[5. Visser JE, Bar PR, Jinnah HA. Lesch-Nyhan disease and the basal ganglia. Brain Res Rev. 2000;32:449 - 75.10.1016/S0165-0173(99)00094-6]Open DOISearch in Google Scholar
[6. Nyhan WL, Wong DF. New approaches to understanding Lesch- Nyhan disease. N Engl J Med. 1996 Jun 13;334(24):1602-4.10.1056/NEJM199606133342411]Search in Google Scholar
[7. Shirley TL, Lewers JC, Egami K, Majumdar A, Kelly M, Ceballos-Picot I, Seidman MM, Jinnah HA. A human neuronal tissue culture model for Lesch-Nyhan disease. J. Neurochem. 2007; 101:841-85310.1111/j.1471-4159.2007.04472.x]Search in Google Scholar
[8. Anderson LT and Ernst M. Self-injury in Lesch-Nyhan disease. J. Autism Dev. Disord. 1994; 24:67-81; + Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006, 129:1201-1217; + Jinnah HA, Ceballos-Picot I, Torres RJ et al (2010) Attenuated variants of Lesch-Nyhan disease. Brain133:671-689]Search in Google Scholar
[9. Micheli V, Camici M, Tozzi M G, et al (2011) Neurological disorders of purine and pyrimidine metabolism. Curr Top Med Chem11(8):923-94710.2174/156802611795347645]Search in Google Scholar
[10. Simmonds HA, Fairbanks LD, Morris GS, Webster DR, Harley EH. Altered erythrocyte nucleotide patterns are characteristic of inherited disorders of purine or pyrimidine metabolism. Clin. Chim. Acta 1988; 171:197-210), 5’nucleotidase (5’NT) (+ Pesi R, Micheli V, Jacomelli G, Peruzzi L, Camici M, Garcia-Gil M.,Allegrini S, Tozzi MG. Cytosolic 50-nucleotidase hyperactivity in erythrocytes of Lesch-Nyhan syndrome patients. Neuroreport 2000; 11:1827- 183110.1097/00001756-200006260-00006]Search in Google Scholar
[11. Micheli V, Sestini S, Rocchigiani M, et al. Hypoxanthine-guanine phosphoribosyltransferase deficiency and erythrocyte synthesis of pyridine coenzymes. Life Sci. 1999;64(26):2479-87.10.1016/S0024-3205(99)00205-2]Search in Google Scholar
[12. Cerboni B, Micheli V, Jacomelli G, Notarantonio L, Pompucci G, and Sestini S. Nadglycohydrolase activity in Lesch-Nyhan erythrocytes. 12th International Symposium on Purine and Pyrimidine Metabolism in Man. Chicago, IL, USA, June 24-28, 2007 Abstract book page 66]Search in Google Scholar
[13. Fairbanks LD, Jacomelli G, Micheli V, Slade T, Simmonds HA. Severe pyridine nucleotide depletion in fibroblasts from Lesch-Nyhan patients. Biochem. J. 2002; 366:265-272]Search in Google Scholar
[14. Jinnah HA, Langlais PJ, Friedmann T. Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. J Pharmacol Exp Ther. 1992 Nov;263(2):596-607.]Search in Google Scholar
[15. Allen SM, Davis WM. Relationship of dopamine to serotonin in the neonatal 6-OHDA rat model of Lesch-Nyhan syndrome. Behav Pharmacol. 1999 Sep;10(5):467-74.10.1097/00008877-199909000-00005]Open DOISearch in Google Scholar
[16. Jinnah HA, Wojcik BE, Hunt M, et al. Dopamine deficiency in a genetic mouse model of Lesch-Nyhan disease. J Neurosci. 1994 Mar;14(3 Pt 1):1164-75.10.1523/JNEUROSCI.14-03-01164.1994]Search in Google Scholar
[17. Jinnah HA, Page T, Friedmann T. Brain purines in a genetic mouse model of Lesch-Nyhan disease. J Neurochem. 1993 Jun;60(6):2036-45.10.1111/j.1471-4159.1993.tb03488.x]Search in Google Scholar
[18 . Jinnah HA., Jones MD, Wojcik BE, Rothstein JD, Hess EJ, Friedmann T, Breese GR. Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J. Neurochem. 1999; 72:225-229]Search in Google Scholar
[19. Seegmiller JE, Rosenbloom FM, Kelley WN. Enzyme defect associated with a sex-linked human neurological disorder and excessive purine synthesis. Science. 1967 Mar 31;155(770):1682-4.10.1126/science.155.3770.1682]Search in Google Scholar
[20. Jinnah HA, Harris JC, Nyhan WL, O’Neill JP. The spectrum of mutations causing HPRT deficiency: an update. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1153-60.10.1081/NCN-200027400]Search in Google Scholar
[21. Marcus S, Steen AM, Andersson B, Lambert B, Kristoffersson U, Francke U. Mutation analysis and prenatal diagnosis in a Lesch- Nyhan family showing non-random X-inactivation interfering with carrier detection tests. Hum Genet. 1992 Jun;89(4):395-400.10.1007/BF00194310]Search in Google Scholar
[22. Gibbs RA, Nguyen PN, Edwards A, Civitello AB, Caskey CT. Multiplex DNA deletion detection and exon sequencing of the hypoxanthine phosphoribosyltransferase gene in Lesch-Nyhan families. Genomics. 1990;7:235 - 44.10.1016/0888-7543(90)90545-6]Open DOISearch in Google Scholar
[23. Nussbaum RL, Crowder WE, Nyhan WL, Caskey CT. A three-allele restriction-fragment-length polymorphism at the hypoxanthine phosphoribosyltransferase locus in man. Proc Natl Acad Sci U S A. 1983 Jul;80(13):4035-9.10.1073/pnas.80.13.40353941956306659]Open DOISearch in Google Scholar
[24. Ogasawara N, Stout JT, Goto H, Sonta S, Matsumoto A, Caskey CT. Molecular analysis of a female Lesch-Nyhan patient. J Clin Invest. 1989 Sep;84(3):1024-7.10.1172/JCI1142243297512760209]Search in Google Scholar
[25. Daniels R, Adjaye J, Bolton V, Monk M. Detection of a novel splice variant of the hypoxanthine-guanine phosphoribosyl transferase gene in human oocytes and preimplantation embryos: implications for a RT-PCR-based preimplantation diagnosis of Lesch-Nyhan syndrome. Mol Hum Reprod. 1998 Aug;4(8):785-9.10.1093/molehr/4.8.7859733436]Search in Google Scholar
[26. Gartler SM, Scott RC, Goldstein JL, Campbell B. Lesch-Nyhan syndrome: rapid detection of heterozygotes by use of hair follicles. Science. 1971 May 7;172(983):572-4.10.1126/science.172.3983.5725555078]Search in Google Scholar
[27. O’Neill JP. Mutation carrier testing in Lesch-Nyhan syndrome families: HPRT mutant frequency and mutation analysis with peripheral blood T lymphocytes. Genet Test. 2004;8:51 - 64.10.1089/10906570432301603015140374]Search in Google Scholar
[28. Dempsey JL, Morley AA, Seshadri RS, Emmerson BT, Gordon R, Bhagat CI. Detection of the carrier state for an X-linked disorder, the Lesch-Nyhan syndrome, by the use of lymphocyte cloning. Hum Genet. 1983;64(3):288-90.10.1007/BF002794146885075]Open DOISearch in Google Scholar
[29. Ponchel F, Toomes C, Bransfield K, et al. Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions. BMC Biotechnol. 2003 Oct 13;3:18.]Search in Google Scholar
[30. Criswell H, Mueller RA, Breese GR. Assessment of purine-dopamine interactions in 6-hydroxydopamine-lesioned rats: evidence for pre- and postsynaptic influences by adenosine. J Pharmacol Exp Ther. 1988;244:493 - 500.]Search in Google Scholar
[31. Breese GR, Mueller RA, Napier TC, Duncan GE. Neurobiology of D1 dopamine receptors after neonatal-6-OHDA treatment: relevance to Lesch-Nyhan disease. Adv Exp Med Biol. 1986;204:197-215.10.1007/978-1-4684-5191-7_132947429]Search in Google Scholar
[32. Breese GR, Criswell HE, Duncan GE, Mueller RA. Dopamine deficiency in self-injurious behavior. Psychopharmacol Bull. 1989;25(3):353-7.]Search in Google Scholar
[33. Okada M, Nutt DJ, Murakami T, et al. Adenosine receptor subtypes modulate two major functional pathways for hippocampal serotonin release. J Neurosci. 2001 Jan 15;21(2):628-40.10.1523/JNEUROSCI.21-02-00628.2001]Search in Google Scholar
[34. Okada M, Kawata Y, Murakami T, et al. Differential effects of adenosine receptor subtypes on release and reuptake of hippocampal serotonin. Eur J Neurosci. 1999 Jan;11(1):1-9.10.1046/j.1460-9568.1999.00415.x9987006]Open DOISearch in Google Scholar
[35. Okada M, Kawata Y, Kiryu K, et al. Effects of adenosine receptor subtypes on hippocampal extracellular serotonin level and serotonin reuptake activity. J Neurochem. 1997 Dec;69(6):2581-8.10.1046/j.1471-4159.1997.69062581.x9375692]Search in Google Scholar
[36. Golembiowska K, Dziubina A. Striatal adenosine A(2A) receptor blockade increases extracellular dopamine release following l-DOPA administration in intact and dopamine-denervated rats. Neuropharmacology. 2004 Sep;47(3):414-26.10.1016/j.neuropharm.2004.04.01815275831]Open DOISearch in Google Scholar
[37. Kudlacek O, Just H, Korkhov VM, et al. The human D2 dopamine receptor synergizes with the A2A adenosine receptor to stimulate adenylyl cyclase in PC12 cells. Neuropsychopharmacology. 2003 Jul;28(7):1317-27.10.1038/sj.npp.130018112784121]Search in Google Scholar
[38. Le Crom S, Prou D, Vernier P. Autocrine activation of adenosine A1 receptors blocks D1A but not D1B dopamine receptor desensitization. J Neurochem. 2002 Sep;82(6):1549-52.10.1046/j.1471-4159.2002.01115.x12354303]Search in Google Scholar
[39. Torres RJ, DeAntonio I, Prior C, Puig JG. Adenosine transport in HPRT deficient lymphocytes from Lesch-Nyhan disease patients. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1193-6.10.1081/NCN-200027463]Open DOISearch in Google Scholar
[40. Torres RJ, DeAntonio I, Prior C, Puig JG. Effects of hypoxanthine on adenosine transport in human lymphocytes. Implications in the pathogenesis of Lesch-Nyhan syndrome. Nucleosides Nucleotides Nucleic Acids. 2004 Oct;23(8-9):1177-9.10.1081/NCN-200027444]Open DOISearch in Google Scholar
[41. Pinto CS, Seifert R. Decreased GTP-stimulated adenylyl cyclase activity in HPRT-deficient human and mouse fibroblast and rat B103 neuroblastoma cell membranes. J Neurochem. 2006;96:454- 9.10.1111/j.1471-4159.2005.03570.x]Search in Google Scholar
[42. Jinnah HA, Page T, Friedmann T. Brain purines in a genetic mouse model of Lesch-Nyhan disease. J Neurochem. 1993 Jun;60(6):2036-4510.1111/j.1471-4159.1993.tb03488.x]Open DOISearch in Google Scholar
[43. Aleo MF, Sestini S, Pompucci G, Preti A. Enzymatic activities affecting exogenous nicotinamide adenine dinucleotide in human skin fibroblasts. J Cell Physiol. 1996 Apr;167(1):173-6.10.1002/(SICI)1097-4652(199604)167:1<173::AID-JCP20>3.0.CO;2-B]Search in Google Scholar
[44. Clark M, Dar MS. The effects of various methods of sacrifice and of ethanol on adenosine levels in selected areas of rat brain. J Neurosci Methods. 1988 Oct;25(3):243-9.10.1016/0165-0270(88)90139-2]Open DOISearch in Google Scholar
[45. Van Praag HM, Plutchik R, Conte H. The serotonin hypothesis of (auto)aggression. Critical appraisal of the evidence. Ann N Y Acad Sci. 1986;487:150-67.10.1111/j.1749-6632.1986.tb27895.x]Search in Google Scholar
[46. Miczek KA, de Almeida RM, Kravitz EA, Rissman EF, de Boer SF, Raine A. Neurobiology of escalated aggression and violence. J Neurosci. 2007 Oct 31;27(44):11803-6.10.1523/JNEUROSCI.3500-07.2007]Search in Google Scholar
[47. Bavaresco CS, Chiarani F, Duringon E, et al. Intrastriatal injection of hypoxanthine reduces striatal serotonin content and impairs spatial memory performance in rats. Metab Brain Dis. 2007 Mar;22(1):67-76.10.1007/s11011-006-9038-x]Open DOISearch in Google Scholar
[48. Manzke H, Gustmann H. Reduced urinary serotonin excretion after intake of high doses of hypoxanthine. Eur J Pediatr. 1989 Jan;148(4):337-40.10.1007/BF00444129]Search in Google Scholar
[49. Saito Y, Takashima S. Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev. 2000 Sep;22 Suppl 1:S122-31.10.1016/S0387-7604(00)00143-1]Search in Google Scholar
[50. Niswender CM, Herrick-Davis K, Dilley GE, et al. RNA editing of the human serotonin 5-HT2C receptor. alterations in suicide and implications for serotonergic pharmacotherapy. Neuropsychopharmacology. 2001 May;24(5):478-91.10.1016/S0893-133X(00)00223-2]Open DOISearch in Google Scholar
[51. Davidson RJ, Putnam KM, Larson CL. Dysfunction in the neural circuitry of emotion regulation - a possible prelude to violence. Science. 2000 Jul 28;289(5479):591-4.10.1126/science.289.5479.59110915615]Search in Google Scholar
[52. Bertelli M, Randi D, Micheli V, et al. Molecular basis of hypoxanthineguanine phosphoribosyltransferase deficiency in Italian Lesch- Nyhan patients: identification of nine novel mutations. J Inherit Metab Dis. 2004;27(6):767-73.10.1023/B:BOLI.0000045799.78633.23]Open DOISearch in Google Scholar
[53. Skopek TR, Recio L, Simpson D, et al. Molecular analyses of a Lesch-Nyhan syndrome mutation (hprtMontreal) by use of T-lymphocyte cultures. Hum Genet. 1990 Jun;85(1):111-6.10.1007/BF002763342358296]Search in Google Scholar
[54. Gathof BS, Rocchigiani M, Micheli V, Gaigl Z, Gresser U. HPRTmutations in Italian Lesch-Nyhan patients. Adv Exp Med Biol. 1998;431:151-3.10.1007/978-1-4615-5381-6_299598049]Search in Google Scholar
[55. Cossu A, Orru S, Jacomelli G, Carcassi C, Contu L, Sestini S, Corradi MR, Pompucci G, Carcassi A, Micheli V. HPRTSARDINIA : a new point mutation causing HPRT deficiency without Lesch-Nyhan disease. Biochem Biophys Acta, -Molecular Basis of Disease 1762 (2006) 29-33.]Search in Google Scholar
[56. Turner CP, Yan H, Schwartz M, Othman T, Rivkees SA. A1 adenosine receptor activation induces ventriculomegaly and white matter loss. Neuroreport. 2002 Jul 2;13(9):1199-204.10.1097/00001756-200207020-0002612151769]Search in Google Scholar
[57. Blum D, Galas MC, Pintor A, et al. A dual role of adenosine A2A receptors in 3-nitropropionic acid-induced striatal lesions: implications for the neuroprotective potential of A2A antagonists. J Neurosci. 2003 Jun 15;23(12):5361-9.10.1523/JNEUROSCI.23-12-05361.2003]Search in Google Scholar
[58. Carta AR, Pinna A, Tronci E, Morelli M. Adenosine A2A and dopamine receptor interactions in basal ganglia of dopamine denervated rats. Neurology. 2003 Dec 9;61(11 Suppl 6):S39-43.10.1212/01.WNL.0000095210.55600.9C]Open DOISearch in Google Scholar