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Volumn 18, Issue 13, 2009, Pages 2317-2327

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: Implications for Lesch-Nyhan disease pathogenesis

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MESSENGER RNA;

EID: 67249161053     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddp164     Document Type: Article
Times cited : (70)

References (49)
  • 1
    • 0000544518 scopus 로고    scopus 로고
    • Lesch-Nyhan disease and its variants
    • Scriver, C.R. et al, eds, McGraw-Hill, New York, USA, pp
    • Jinnah, H.A. and Friedmann, T. (2000) Lesch-Nyhan disease and its variants. Scriver, C.R. et al. (eds), The Metabolic and Molecular Bases of Inherited Disease. McGraw-Hill, New York, USA, pp. 2537-2570.
    • (2000) The Metabolic and Molecular Bases of Inherited Disease , pp. 2537-2570
    • Jinnah, H.A.1    Friedmann, T.2
  • 2
    • 33646227430 scopus 로고    scopus 로고
    • Jinnah, H.A., Visser, J.E., Harris, J.C., Verdu, A., Larovere, L., Ceballos-Picot, I., Gonzalez-Alegre, P., Neychev, V., Torres, R.J., Dulac, O. et al. Lesch-Nyhan Disease International Study Group (2006) Delineation of the motor disorder of Lesch-Nyhan disease. Brain, 129, 1201-1217.
    • Jinnah, H.A., Visser, J.E., Harris, J.C., Verdu, A., Larovere, L., Ceballos-Picot, I., Gonzalez-Alegre, P., Neychev, V., Torres, R.J., Dulac, O. et al. Lesch-Nyhan Disease International Study Group (2006) Delineation of the motor disorder of Lesch-Nyhan disease. Brain, 129, 1201-1217.
  • 4
    • 0035664018 scopus 로고    scopus 로고
    • Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency
    • Schretlen, D.S., Harris, J.C., Park, K.S., Jinnah, H.A. and Del Pozo, N.O. (2001) Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. J. Int. Neuropsychol. Soc., 7, 805-812.
    • (2001) J. Int. Neuropsychol. Soc , vol.7 , pp. 805-812
    • Schretlen, D.S.1    Harris, J.C.2    Park, K.S.3    Jinnah, H.A.4    Del Pozo, N.O.5
  • 5
    • 0342699711 scopus 로고    scopus 로고
    • Lesch-Nyhan syndrome and the basal ganglia
    • Visser, J.E., Baer, P.R. and Jinnah, H.A. (2000) Lesch-Nyhan syndrome and the basal ganglia. Brain Res. Rev., 32, 449-475.
    • (2000) Brain Res. Rev , vol.32 , pp. 449-475
    • Visser, J.E.1    Baer, P.R.2    Jinnah, H.A.3
  • 6
    • 0033926261 scopus 로고    scopus 로고
    • Dopamine function in Lesch-Nyhan disease
    • Nyhan, W.L. (2000) Dopamine function in Lesch-Nyhan disease. Environ. Health Persp., 108, 409-411.
    • (2000) Environ. Health Persp , vol.108 , pp. 409-411
    • Nyhan, W.L.1
  • 7
    • 0033839296 scopus 로고    scopus 로고
    • Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome
    • Saito, Y. and Takashima, S. (2000) Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev., 22, S122-S131.
    • (2000) Brain Dev , vol.22
    • Saito, Y.1    Takashima, S.2
  • 8
    • 0021879676 scopus 로고
    • The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome
    • Baumeister, A.A. and Frye, G.D. (1985) The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome. Neurosci. Biobehav. Rev., 9, 169-178.
    • (1985) Neurosci. Biobehav. Rev , vol.9 , pp. 169-178
    • Baumeister, A.A.1    Frye, G.D.2
  • 10
    • 0033057122 scopus 로고    scopus 로고
    • Dopamine receptor upregulation in Lesch-Nyhan syndrome: A postmortem study
    • Saito, Y., Ito, M., Hanaoka, S., Ohama, E., Akaboshi, S. and Takashima, S. (1999) Dopamine receptor upregulation in Lesch-Nyhan syndrome: A postmortem study. Neuropediatrics, 30, 66-71.
    • (1999) Neuropediatrics , vol.30 , pp. 66-71
    • Saito, Y.1    Ito, M.2    Hanaoka, S.3    Ohama, E.4    Akaboshi, S.5    Takashima, S.6
  • 13
    • 0026448598 scopus 로고
    • Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome
    • Jinnah, H.A., Langlais, P.J. and Friedmann, T. (1992) Functional analysis of brain dopamine systems in a genetic mouse model of Lesch-Nyhan syndrome. J. Pharmacol. Exp. Ther., 263, 596-607.
    • (1992) J. Pharmacol. Exp. Ther , vol.263 , pp. 596-607
    • Jinnah, H.A.1    Langlais, P.J.2    Friedmann, T.3
  • 15
    • 0032901230 scopus 로고    scopus 로고
    • Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease
    • Jinnah, H.A., Jones, M.D., Wojcik, B.E., Rothstein, J.D., Hess, E.J., Friedmann, T. and Breese, G.R. (1999) Influence of age and strain on striatal dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J. Neurochem., 72, 225-229.
    • (1999) J. Neurochem , vol.72 , pp. 225-229
    • Jinnah, H.A.1    Jones, M.D.2    Wojcik, B.E.3    Rothstein, J.D.4    Hess, E.J.5    Friedmann, T.6    Breese, G.R.7
  • 16
    • 0026525505 scopus 로고
    • Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization
    • Jinnah, H.A., Hess, E.J., Wilson, M.C., Gage, F.H. and Friedman, T. (1992) Localization of hypoxanthine-guanine phosphoribosyltransferase mRNA in the mouse brain by in situ hybridization. Mol. Cell. Neurosci., 3, 64-78.
    • (1992) Mol. Cell. Neurosci , vol.3 , pp. 64-78
    • Jinnah, H.A.1    Hess, E.J.2    Wilson, M.C.3    Gage, F.H.4    Friedman, T.5
  • 17
    • 0027287356 scopus 로고
    • Brain purines in a genetic mouse model of Lesch-Nyhan disease
    • Jinnah, H.A., Page, T. and Friedmann, T. (1993) Brain purines in a genetic mouse model of Lesch-Nyhan disease. J. Neurochem., 60 2036-2045.
    • (1993) J. Neurochem , vol.60 , pp. 2036-2045
    • Jinnah, H.A.1    Page, T.2    Friedmann, T.3
  • 20
    • 2942590758 scopus 로고    scopus 로고
    • Tetrahydrobiopterin and brain dopamine loss in a genetic mouse model of Lesch-Nyhan disease
    • Hyland, K., Kasim, S., Egami, K., Arnold, L.A. and Jinnah, H.A. (2004) Tetrahydrobiopterin and brain dopamine loss in a genetic mouse model of Lesch-Nyhan disease. J. Inherit. Metab. Dis., 27, 165-178.
    • (2004) J. Inherit. Metab. Dis , vol.27 , pp. 165-178
    • Hyland, K.1    Kasim, S.2    Egami, K.3    Arnold, L.A.4    Jinnah, H.A.5
  • 21
    • 33847659167 scopus 로고    scopus 로고
    • Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficent mice
    • Smith, D.W. and Jinnah, H.A. (2007) Role of neuronal nitric oxide in the dopamine deficit of HPRT-deficent mice. Metab. Brain Dis., 22 39-43.
    • (2007) Metab. Brain Dis , vol.22 , pp. 39-43
    • Smith, D.W.1    Jinnah, H.A.2
  • 24
    • 33846804054 scopus 로고    scopus 로고
    • Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for engrailed1
    • Sonnier, L., Le Pen, G., Hartmann, A., Bizot, J.C., Trovero, F., Krebs, M.O. and Prochiantz, A. (2007) Progressive loss of dopaminergic neurons in the ventral midbrain of adult mice heterozygote for engrailed1. J. Neurosci., 27, 1063-1071.
    • (2007) J. Neurosci , vol.27 , pp. 1063-1071
    • Sonnier, L.1    Le Pen, G.2    Hartmann, A.3    Bizot, J.C.4    Trovero, F.5    Krebs, M.O.6    Prochiantz, A.7
  • 25
    • 10644270649 scopus 로고    scopus 로고
    • Distinct mechanisms of neurodegeneration induced by chronic complex I inhibition in dopaminergic and non-dopaminergic cells
    • Kweon, G.R., Marks, J.D., Krencik, R., Leung, E.H., Schumacker, P.T., Hyland, K. and Kang, U.J. (2004) Distinct mechanisms of neurodegeneration induced by chronic complex I inhibition in dopaminergic and non-dopaminergic cells. J. Biol. Chem., 279 51783-51792.
    • (2004) J. Biol. Chem , vol.279 , pp. 51783-51792
    • Kweon, G.R.1    Marks, J.D.2    Krencik, R.3    Leung, E.H.4    Schumacker, P.T.5    Hyland, K.6    Kang, U.J.7
  • 26
    • 0023888809 scopus 로고
    • Lesch-Nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters
    • Jankovic, J., Caskey, T.C., Stout, J.T. and Butler, I.J. (1988) Lesch-Nyhan syndrome: A study of motor behavior and cerebrospinal fluid neurotransmitters. Ann. Neurol., 23, 466-469.
    • (1988) Ann. Neurol , vol.23 , pp. 466-469
    • Jankovic, J.1    Caskey, T.C.2    Stout, J.T.3    Butler, I.J.4
  • 27
    • 34247893935 scopus 로고    scopus 로고
    • Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease: Case reports and review
    • Del Bigio, M.R. and Halliday, W.C. (2007) Multifocal atrophy of cerebellar internal granular neurons in Lesch-Nyhan disease: Case reports and review. J. Neuropathol. Exp. Neurol., 66, 346-353.
    • (2007) J. Neuropathol. Exp. Neurol , vol.66 , pp. 346-353
    • Del Bigio, M.R.1    Halliday, W.C.2
  • 28
    • 34047191826 scopus 로고    scopus 로고
    • Midbrain dopamine neuron differentiation: Factors and fates
    • Abeliovich, A. and Hammond, R. (2007) Midbrain dopamine neuron differentiation: Factors and fates. Dev. Biol., 304, 447-454.
    • (2007) Dev. Biol , vol.304 , pp. 447-454
    • Abeliovich, A.1    Hammond, R.2
  • 29
    • 43049159817 scopus 로고    scopus 로고
    • Transcriptional regulation of mesencephalic dopaminergic neurons: The full circle of life and death
    • Alavian, K.N., Scholz, C. and Simon, H.H. (2008) Transcriptional regulation of mesencephalic dopaminergic neurons: The full circle of life and death. Mov. Disord., 23, 319-328.
    • (2008) Mov. Disord , vol.23 , pp. 319-328
    • Alavian, K.N.1    Scholz, C.2    Simon, H.H.3
  • 30
    • 34347336583 scopus 로고    scopus 로고
    • Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins
    • Sgaier, S.K., Lao, Z., Villanueva, M.P., Berenshteyn, F., Stephen, D., Turnbull, R.K. and Joyner, A.L. (2007) Genetic subdivision of the tectum and cerebellum into functionally related regions based on differential sensitivity to engrailed proteins. Development, 134, 2325-2335.
    • (2007) Development , vol.134 , pp. 2325-2335
    • Sgaier, S.K.1    Lao, Z.2    Villanueva, M.P.3    Berenshteyn, F.4    Stephen, D.5    Turnbull, R.K.6    Joyner, A.L.7
  • 31
    • 0141891450 scopus 로고    scopus 로고
    • Can transcription factors function as cell-cell signalling molecules?
    • Prochiantz, A. and Joliot, A. (2003) Can transcription factors function as cell-cell signalling molecules? Nat. Rev. Mol. Cell. Biol., 4, 814-819.
    • (2003) Nat. Rev. Mol. Cell. Biol , vol.4 , pp. 814-819
    • Prochiantz, A.1    Joliot, A.2
  • 32
    • 34249070198 scopus 로고    scopus 로고
    • The topological role of homeoproteins in the developing central nervous system
    • Brunet, I., Di Nardo, A.A., Sonnier, L., Beurdeley, M. and Prochiantz, A. (2007) The topological role of homeoproteins in the developing central nervous system. Trends Neurosci., 30, 260-267.
    • (2007) Trends Neurosci , vol.30 , pp. 260-267
    • Brunet, I.1    Di Nardo, A.A.2    Sonnier, L.3    Beurdeley, M.4    Prochiantz, A.5
  • 33
    • 0029059790 scopus 로고
    • Rescue of the En-1 mutant phenotype by replacement of En-1 with En-2
    • Hanks, M., Wurst, W., Anson-Cartwright, L., Auerbach, A.B. and Joyner, A.L. (1995) Rescue of the En-1 mutant phenotype by replacement of En-1 with En-2. Science, 269, 679-682.
    • (1995) Science , vol.269 , pp. 679-682
    • Hanks, M.1    Wurst, W.2    Anson-Cartwright, L.3    Auerbach, A.B.4    Joyner, A.L.5
  • 35
    • 0030560817 scopus 로고    scopus 로고
    • Engrailed and retinotectal topography
    • Retaux, S. and Harris, W.A. (1996) Engrailed and retinotectal topography. Trends Neurosci., 19, 542-546.
    • (1996) Trends Neurosci , vol.19 , pp. 542-546
    • Retaux, S.1    Harris, W.A.2
  • 36
    • 0038297111 scopus 로고    scopus 로고
    • Joint regulation of the MAP1B promoter by HNF3β/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors
    • Foucher, I., Montesinos, M.L., Volovitch, M., Prochiantz, A. and Trembleau, A. (2003) Joint regulation of the MAP1B promoter by HNF3β/Foxa2 and Engrailed is the result of a highly conserved mechanism for direct interaction of homeoproteins and Fox transcription factors. Development, 130, 1867-1876.
    • (2003) Development , vol.130 , pp. 1867-1876
    • Foucher, I.1    Montesinos, M.L.2    Volovitch, M.3    Prochiantz, A.4    Trembleau, A.5
  • 40
    • 9944225262 scopus 로고    scopus 로고
    • Molecular mechanisms for multitasking: Recent crystal structures of moonlighting proteins
    • Jeffery, C.J. (2004) Molecular mechanisms for multitasking: Recent crystal structures of moonlighting proteins. Curr. Opin. Struct. Biol., 14, 663-668.
    • (2004) Curr. Opin. Struct. Biol , vol.14 , pp. 663-668
    • Jeffery, C.J.1
  • 41
    • 0037235543 scopus 로고    scopus 로고
    • Multifunctional proteins: Examples of gene sharing
    • Jeffery, C.J. (2003) Multifunctional proteins: Examples of gene sharing. Ann. Med., 35, 28-35.
    • (2003) Ann. Med , vol.35 , pp. 28-35
    • Jeffery, C.J.1
  • 42
    • 12744256726 scopus 로고    scopus 로고
    • Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: A model for basal ganglia dysfunction in Lesch-Nyhan disease
    • Messina, E., Micheli, V. and Giacomello, A. (2005) Guanine nucleotide depletion induces differentiation and aberrant neurite outgrowth in human dopaminergic neuroblastoma lines: A model for basal ganglia dysfunction in Lesch-Nyhan disease. Neurosci. Lett., 375, 97-100.
    • (2005) Neurosci. Lett , vol.375 , pp. 97-100
    • Messina, E.1    Micheli, V.2    Giacomello, A.3
  • 45
    • 0026071062 scopus 로고
    • High level expression in Escherichia coli of soluble, enzymatically active schistosomal hypoxanthine/guanine phosphoribosyltransferase and trypanosomal ornithine decarboxylase
    • Craig, S.P. 3rd, Yuan, L., Kuntz, D.A., McKerrow, J.H. and Wang, C.C. (1991) High level expression in Escherichia coli of soluble, enzymatically active schistosomal hypoxanthine/guanine phosphoribosyltransferase and trypanosomal ornithine decarboxylase. Proc. Natl Acad. Sci. USA, 88, 2500-2504.
    • (1991) Proc. Natl Acad. Sci. USA , vol.88 , pp. 2500-2504
    • Craig 3rd, S.P.1    Yuan, L.2    Kuntz, D.A.3    McKerrow, J.H.4    Wang, C.C.5
  • 47
    • 0014289330 scopus 로고
    • Purine phosphoribosyltransferase activity of human erythrocytes: Technic of determination
    • Cartier, P. and Hamet, M. (1968) Purine phosphoribosyltransferase activity of human erythrocytes: Technic of determination. Clin. Chim. Acta, 20, 205-214.
    • (1968) Clin. Chim. Acta , vol.20 , pp. 205-214
    • Cartier, P.1    Hamet, M.2


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