메뉴 건너뛰기




Volumn 380, Issue 12, 1999, Pages 1355-1364

Molecular genetics of dopa-responsive dystonia

Author keywords

Dopa responsive dystonia; GTP cyclohydrolase I; Tyrosine hydroxylase

Indexed keywords

DOPAMINE; GUANOSINE TRIPHOSPHATE CYCLOHYDROLASE I; LEVODOPA; MESSENGER RNA; TETRAHYDROBIOPTERIN; TYROSINE 3 MONOOXYGENASE;

EID: 0033376984     PISSN: 14316730     EISSN: None     Source Type: Journal    
DOI: 10.1515/BC.1999.175     Document Type: Review
Times cited : (84)

References (78)
  • 1
    • 0030059804 scopus 로고    scopus 로고
    • Dopa-responsive dystonia in British patients: New mutations of the GTP cyclohydroxylase I gene and evidence for genetic heterogeneity
    • Bandmann, O., Nygaard, T.G., Surtees, R., Marsden, C.D., Wood, N.W., and Harding, A.E. (1996). Dopa-responsive dystonia in British patients: new mutations of the GTP cyclohydroxylase I gene and evidence for genetic heterogeneity. Hum. Mol. Genet. 5, 403-406.
    • (1996) Hum. Mol. Genet. , vol.5 , pp. 403-406
    • Bandmann, O.1    Nygaard, T.G.2    Surtees, R.3    Marsden, C.D.4    Wood, N.W.5    Harding, A.E.6
  • 3
    • 77956754547 scopus 로고    scopus 로고
    • Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa responsive dystonia
    • D. Goldstein, G. Eisenhofer, and R. McCarty, eds. (New York: Academic Press)
    • Bartholomé, K., and Lüdecke, B. (1998). Mutations in the tyrosine hydroxylase gene cause various forms of L-dopa responsive dystonia. Advances in Pharmacology, Catecholamines: Bridging Basic Science with Clinical Medicine, D. Goldstein, G. Eisenhofer, and R. McCarty, eds. (New York: Academic Press), pp. 48-49.
    • (1998) Advances in Pharmacology, Catecholamines: Bridging Basic Science with Clinical Medicine , pp. 48-49
    • Bartholomé, K.1    Lüdecke, B.2
  • 4
    • 0013592137 scopus 로고    scopus 로고
    • A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive, and dopa responsive dystonia
    • Beyer, K., Ladoniga, J.-V., Beeino-Bilbao, B., Cababelos, R., and de la Fuente-Fernández, R. (1997). A novel point mutation in the GTP cyclohydrolase I gene in a Spanish family with hereditary progressive, and dopa responsive dystonia. Lancet 349, 420-421.
    • (1997) Lancet , vol.349 , pp. 420-421
    • Beyer, K.1    Ladoniga, J.-V.2    Beeino-Bilbao, B.3    Cababelos, R.4    De La Fuente-Fernández, R.5
  • 5
    • 0031946723 scopus 로고    scopus 로고
    • Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia
    • Bezin, L., Nygaard, T.G., Neville, J.D., Shen, H., and Levin, R.A. (1998). Reduced lymphoblast neopterin detects GTP cyclohydrolase dysfunction in dopa-responsive dystonia. Neurology 50, 1021-1027.
    • (1998) Neurology , vol.50 , pp. 1021-1027
    • Bezin, L.1    Nygaard, T.G.2    Neville, J.D.3    Shen, H.4    Levin, R.A.5
  • 6
    • 0021837467 scopus 로고
    • Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: Detection of heterozygotes of GTP cyclohydrolase I deficiency
    • Blau, N., Joller, P., Atarés, M., Cardesa-Garcia, J., and Niederwieser, A. (1983). Increase of GTP cyclohydrolase I activity in mononuclear blood cells by stimulation: detection of heterozygotes of GTP cyclohydrolase I deficiency. Clin. Chim. Acta 148, 47-52.
    • (1983) Clin. Chim. Acta , vol.148 , pp. 47-52
    • Blau, N.1    Joller, P.2    Atarés, M.3    Cardesa-Garcia, J.4    Niederwieser, A.5
  • 8
    • 15444348451 scopus 로고    scopus 로고
    • A new mutation of GTP cyclohydrolase I gene causative of dopa-responsive dystonia in French family
    • Briqtie, S., Chartiar-Harlin, M.C., Dhondt, J.L., Delacourta, A., and Desle, A. (1997). A new mutation of GTP cyclohydrolase I gene causative of dopa-responsive dystonia in French family. Movement Disorder 12, Suppl. 1, 253.
    • (1997) Movement Disorder , vol.12 , Issue.1 SUPPL. , pp. 253
    • Briqtie, S.1    Chartiar-Harlin, M.C.2    Dhondt, J.L.3    Delacourta, A.4    Desle, A.5
  • 9
    • 0031958577 scopus 로고    scopus 로고
    • High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
    • Deuschl, G., Benecke, R., Martinius, J., and Müller, U. (1998). High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann. Neurol. 43, 634-639.
    • (1998) Ann. Neurol. , vol.43 , pp. 634-639
    • Deuschl, G.1    Benecke, R.2    Martinius, J.3    Müller, U.4
  • 10
    • 0344301853 scopus 로고    scopus 로고
    • Tardive dyskinesia in dopa-responsive dystonia: A reappraisal of the dopamine hypothesis of tardive dyskinesia
    • de la Fuente-Fernández, R. (1998). Tardive dyskinesia in dopa-responsive dystonia: a reappraisal of the dopamine hypothesis of tardive dyskinesia. Neurology 50, 1134-1135.
    • (1998) Neurology , vol.50 , pp. 1134-1135
    • De La Fuente-Fernández, R.1
  • 11
    • 0029889629 scopus 로고    scopus 로고
    • New species of human tyrosine hydroxylase mRNA are produced in variable amounts in adrenal medulla and are overexpressed in progressive supranuclear palsy
    • Dumas, S., Le Hir, H., Bodeau-Péan, S., Hirsch, E., Thermes, C., and Mallet, J. (1996). New species of human tyrosine hydroxylase mRNA are produced in variable amounts in adrenal medulla and are overexpressed in progressive supranuclear palsy. J. Neurochem. 67, 19-25.
    • (1996) J. Neurochem. , vol.67 , pp. 19-25
    • Dumas, S.1    Le Hir, H.2    Bodeau-Péan, S.3    Hirsch, E.4    Thermes, C.5    Mallet, J.6
  • 12
    • 0023914805 scopus 로고
    • Dystonia with marked diurnal variation associated with biopterin deficiency
    • Fink, J.K., Barton, N., Cohen, W., Lovenberg, W., Burns, R.S., and Hallett, M. (1988). Dystonia with marked diurnal variation associated with biopterin deficiency. Neurology 38, 707-711.
    • (1988) Neurology , vol.38 , pp. 707-711
    • Fink, J.K.1    Barton, N.2    Cohen, W.3    Lovenberg, W.4    Burns, R.S.5    Hallett, M.6
  • 13
    • 0013588969 scopus 로고    scopus 로고
    • Molecular characterization of disease related mutant of human phenylalanine hydroxylase and tyrosine hydroxylase
    • Flatmark, T., Knappskog, P.M., Bjørgo, E., and Martinez, A. (1997). Molecular characterization of disease related mutant of human phenylalanine hydroxylase and tyrosine hydroxylase. Pteridines 8, 58-59.
    • (1997) Pteridines , vol.8 , pp. 58-59
    • Flatmark, T.1    Knappskog, P.M.2    Bjørgo, E.3    Martinez, A.4
  • 14
    • 0001749787 scopus 로고    scopus 로고
    • Structural insight into the aromatic amino acid hydroxylases and their disease-related mutant forms
    • Flatmark, T., and Stevens, R.C. (1997). Structural insight into the aromatic amino acid hydroxylases and their disease-related mutant forms. Chem. Rev. 99, 2137-2160.
    • (1997) Chem. Rev. , vol.99 , pp. 2137-2160
    • Flatmark, T.1    Stevens, R.C.2
  • 15
    • 0027354028 scopus 로고
    • CSF biopterin levels and clinical features of patients with juvenile parkinsonism
    • H. Narabayashi, T. Nagatsu, N. Yanagisawa and Y. Mizuno, eds. (New York, USA: Raven Press)
    • Furukawa, Y., Nishi, K., Kondo, T., Mizuno, Y., and Narabayashi, H. (1993). CSF biopterin levels and clinical features of patients with juvenile parkinsonism. In: Advances in Neurology, Vol. 60, H. Narabayashi, T. Nagatsu, N. Yanagisawa and Y. Mizuno, eds. (New York, USA: Raven Press), pp. 562-567.
    • (1993) Advances in Neurology , vol.60 , pp. 562-567
    • Furukawa, Y.1    Nishi, K.2    Kondo, T.3    Mizuno, Y.4    Narabayashi, H.5
  • 19
    • 0025141418 scopus 로고
    • Biochemical and neurophysiological investigation in two forms of Segawa's disease
    • Görke, W., and Bartholomé, K. (1990). Biochemical and neurophysiological investigation in two forms of Segawa's disease. Neuropediatrics 21, 3-8.
    • (1990) Neuropediatrics , vol.21 , pp. 3-8
    • Görke, W.1    Bartholomé, K.2
  • 20
    • 0023265418 scopus 로고
    • A single human gene encoding multiple tyrosine hydroxylase with different predicted functional characteristics
    • Grima, B., Lamouroux, A., Boni, C., Julian, J.-F., Javoy-Agid, F., and Mallet, J. (1987). A single human gene encoding multiple tyrosine hydroxylase with different predicted functional characteristics. Nature 326, 707-711.
    • (1987) Nature , vol.326 , pp. 707-711
    • Grima, B.1    Lamouroux, A.2    Boni, C.3    Julian, J.-F.4    Javoy-Agid, F.5    Mallet, J.6
  • 21
    • 0029162075 scopus 로고
    • Exon skipping caused by a base substitution at a splice in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia
    • Hirano, M., Tamaru, Y., Nagai, Y., Ito, H., Imai, T., and Ueno, S. (1995). Exon skipping caused by a base substitution at a splice in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem. Biophys. Res. Commun. 213, 645-651.
    • (1995) Biochem. Biophys. Res. Commun. , vol.213 , pp. 645-651
    • Hirano, M.1    Tamaru, Y.2    Nagai, Y.3    Ito, H.4    Imai, T.5    Ueno, S.6
  • 22
    • 0029829711 scopus 로고    scopus 로고
    • Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia
    • Hirano, M., Tamaru, Y., Ito, H., Matsumoto, S., Imai, T., and Ueno, S. (1996). Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia. Ann. Neurol. 40, 796-798.
    • (1996) Ann. Neurol. , vol.40 , pp. 796-798
    • Hirano, M.1    Tamaru, Y.2    Ito, H.3    Matsumoto, S.4    Imai, T.5    Ueno, S.6
  • 23
    • 0031578225 scopus 로고    scopus 로고
    • Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia
    • Hirano, M., Imaiso, Y., and Ueno, S. (1997). Differential splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia. Biochem. Biophys. Res. Commun. 234, 316-319.
    • (1997) Biochem. Biophys. Res. Commun. , vol.234 , pp. 316-319
    • Hirano, M.1    Imaiso, Y.2    Ueno, S.3
  • 24
    • 0031689897 scopus 로고    scopus 로고
    • Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia
    • Hirano, M., Yanagihara, T., and Ueno, S. (1998). Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia. Ann. Neurol. 44, 365-371.
    • (1998) Ann. Neurol. , vol.44 , pp. 365-371
    • Hirano, M.1    Yanagihara, T.2    Ueno, S.3
  • 25
    • 0031962256 scopus 로고    scopus 로고
    • Nigrostriatal dopamine neurons express low levels of GTP cyclohydrolase I protein
    • Hirayama, K., and Kapatos, G. (1998). Nigrostriatal dopamine neurons express low levels of GTP cyclohydrolase I protein. J. Neurochem. 70, 164-170.
    • (1998) J. Neurochem. , vol.70 , pp. 164-170
    • Hirayama, K.1    Kapatos, G.2
  • 27
    • 0025770341 scopus 로고
    • Primary structure of mouse tyrosine hydroxylase deduced from its cDNA
    • Ichikawa, S., Sasaoka, T., and Nagatsu, T. (1991). Primary structure of mouse tyrosine hydroxylase deduced from its cDNA. Biochem. Biophys. Res. Commun. 176, 1610-1616.
    • (1991) Biochem. Biophys. Res. Commun. , vol.176 , pp. 1610-1616
    • Ichikawa, S.1    Sasaoka, T.2    Nagatsu, T.3
  • 29
    • 0028902943 scopus 로고
    • Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency
    • Ichinose, H., Ohye, T., Matsuda, Y., Hori, T., Blau, N., Burlina, A., Rouse, B., Mutalon, R., Fujita, K., and Nagatsu, T. (1995a). Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J. Biol. Chem. 276, 10062-10071.
    • (1995) J. Biol. Chem. , vol.276 , pp. 10062-10071
    • Ichinose, H.1    Ohye, T.2    Matsuda, Y.3    Hori, T.4    Blau, N.5    Burlina, A.6    Rouse, B.7    Mutalon, R.8    Fujita, K.9    Nagatsu, T.10
  • 31
    • 0028914993 scopus 로고
    • GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism
    • Ichinose, H., Ohye, T., Yokochi, M., Fujita, K., and Nagatsu, T. (1995c). GTP cyclohydrolase I activity in mononuclear blood cells in juvenile parkinsonism. Neurosci. Lett. 190, 140-142.
    • (1995) Neurosci. Lett. , vol.190 , pp. 140-142
    • Ichinose, H.1    Ohye, T.2    Yokochi, M.3    Fujita, K.4    Nagatsu, T.5
  • 33
    • 0031909292 scopus 로고    scopus 로고
    • A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia
    • Imaiso, Y., Taniwaki, T., Yamada, T., Yoshimura, T., Hirano, M., Ueno, S., Kaneda, N., and Kira, J. (1998). A novel mutation of the GTP-cyclohydrolase I gene in a patient with hereditary progressive dystonia/dopa-responsive dystonia. Neurology 50, 517-519.
    • (1998) Neurology , vol.50 , pp. 517-519
    • Imaiso, Y.1    Taniwaki, T.2    Yamada, T.3    Yoshimura, T.4    Hirano, M.5    Ueno, S.6    Kaneda, N.7    Kira, J.8
  • 34
    • 0033554003 scopus 로고    scopus 로고
    • Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation
    • Inagaki, H., Ohye, T., Suzuki, T., Segawa, M., Nomura, Y., Nagatsu, T., and Ichinose, H. (1999). Decrease in GTP cyclohydrolase I gene expression caused by inactivation of one allele in hereditary progressive dystonia with marked diurnal fluctuation. Biochem. Biophys. Res. Commun. 260, 747-751.
    • (1999) Biochem. Biophys. Res. Commun. , vol.260 , pp. 747-751
    • Inagaki, H.1    Ohye, T.2    Suzuki, T.3    Segawa, M.4    Nomura, Y.5    Nagatsu, T.6    Ichinose, H.7
  • 36
    • 0030756449 scopus 로고    scopus 로고
    • GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs
    • Jarman, P.R., Bandmann, O., Marsdan, C.D., and Wood, N.W. (1997). GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs. J. Neurol. Neurosurg. Psychiatry 63, 304-308.
    • (1997) J. Neurol. Neurosurg. Psychiatry , vol.63 , pp. 304-308
    • Jarman, P.R.1    Bandmann, O.2    Marsdan, C.D.3    Wood, N.W.4
  • 37
    • 0023634765 scopus 로고
    • Isolation of a novel cDNA clone for human tyrosine hydroxylase: Alternative RNA splicing produces four kinds of mRNA from a single gene
    • Kaneda, N., Kobayashi, K., Ichinose, H., Kishi, F., Nakazawa, A., Kurosawa, Y., Fujita, K., and Nagatsu, T. (1987). Isolation of a novel cDNA clone for human tyrosine hydroxylase: alternative RNA splicing produces four kinds of mRNA from a single gene. Biochem. Biophys. Res. Commun. 146, 971-975.
    • (1987) Biochem. Biophys. Res. Commun. , vol.146 , pp. 971-975
    • Kaneda, N.1    Kobayashi, K.2    Ichinose, H.3    Kishi, F.4    Nakazawa, A.5    Kurosawa, Y.6    Fujita, K.7    Nagatsu, T.8
  • 38
    • 78651125086 scopus 로고
    • The structure of the phenylalanine hydroxylase cofactor
    • USA
    • Kaufman, S. (1963). The structure of the phenylalanine hydroxylase cofactor. Proc. Natl. Acad. Sec. USA 50, 1085-1093.
    • (1963) Proc. Natl. Acad. Sec. , vol.50 , pp. 1085-1093
    • Kaufman, S.1
  • 41
    • 0029049876 scopus 로고
    • Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q 381 K) in the tyrosine hydroxylase gene
    • Knappskog, P.M., Flatmark, T., Mallet, J., Lüdecke, B., and Bartholomé, K. (1995). Recessively inherited L-DOPA-responsive dystonia caused by a point mutation (Q 381 K) in the tyrosine hydroxylase gene. Hum. Mol. Genet. 4, 1209-1212.
    • (1995) Hum. Mol. Genet. , vol.4 , pp. 1209-1212
    • Knappskog, P.M.1    Flatmark, T.2    Mallet, J.3    Lüdecke, B.4    Bartholomé, K.5
  • 42
    • 0023899558 scopus 로고
    • Structure of the human tyrosine hydroxylase gene: Alternative splicing from a single gene accounts for generation of four mRNA types
    • Kobayashi, K., Kaneda, N., Ichinose, H., Kishi, F., Nakazawa, A., Kurosawa, Y., Fujita, K., and Nagatsu, T. (1988). Structure of the human tyrosine hydroxylase gene: alternative splicing from a single gene accounts for generation of four mRNA types. J. Biochem. 103, 907-912.
    • (1988) J. Biochem. , vol.103 , pp. 907-912
    • Kobayashi, K.1    Kaneda, N.2    Ichinose, H.3    Kishi, F.4    Nakazawa, A.5    Kurosawa, Y.6    Fujita, K.7    Nagatsu, T.8
  • 43
    • 0024351625 scopus 로고
    • Reduced biopterin as a cofactor in the generation of nitrogen oxides by murine macrophages
    • Kwon, N.S., Nathan, C.F., and Stuehr, D.J. (1987). Reduced biopterin as a cofactor in the generation of nitrogen oxides by murine macrophages. J. Biol. Chem. 264, 20496-20501.
    • (1987) J. Biol. Chem. , vol.264 , pp. 20496-20501
    • Kwon, N.S.1    Nathan, C.F.2    Stuehr, D.J.3
  • 44
    • 0023852821 scopus 로고
    • Analysis of the 5′-region of the human tyrosine hydroxylase gene: Combinatorial patterns of exon splicing generate multiple tyrosine hydroxylase isoforms
    • Le Boudellés, B., Boularand, S., Boni, C., Horellou, P., Dumas, S., Grima, B., and Mallet, J. (1988). Analysis of the 5′-region of the human tyrosine hydroxylase gene: combinatorial patterns of exon splicing generate multiple tyrosine hydroxylase isoforms. J. Neurochem. 50, 988-991.
    • (1988) J. Neurochem. , vol.50 , pp. 988-991
    • Le Boudellés, B.1    Boularand, S.2    Boni, C.3    Horellou, P.4    Dumas, S.5    Grima, B.6    Mallet, J.7
  • 45
    • 78651197716 scopus 로고
    • Elucidation of the rate-limiting step in norepinephrine biosynthesis in the perfused guinea-pig heart
    • Levitt, M., Spector, S., Sjoerdsma, A., and Udenfriend, S. (1965). Elucidation of the rate-limiting step in norepinephrine biosynthesis in the perfused guinea-pig heart. J. Pharmacol. Exp. Therap 148, 1-8.
    • (1965) J. Pharmacol. Exp. Therap , vol.148 , pp. 1-8
    • Levitt, M.1    Spector, S.2    Sjoerdsma, A.3    Udenfriend, S.4
  • 47
    • 0014201305 scopus 로고
    • Tryptophan hydroxylase: Measurement in pineal gland, brain stem, and carcinoid tumor
    • Lovenberg, W., Jequir, E., and Sjoerdsma, A. (1967). Tryptophan hydroxylase: measurement in pineal gland, brain stem, and carcinoid tumor. Science 155, 217-219.
    • (1967) Science , vol.155 , pp. 217-219
    • Lovenberg, W.1    Jequir, E.2    Sjoerdsma, A.3
  • 48
    • 0029062529 scopus 로고
    • Frequent sequence variant in the human tyrosine hydroxylase gene
    • Lüdecke, B., and Bartholomé, K. (1995). Frequent sequence variant in the human tyrosine hydroxylase gene. Human Genet. 95, 716.
    • (1995) Human Genet. , vol.95 , pp. 716
    • Lüdecke, B.1    Bartholomé, K.2
  • 49
    • 0028816765 scopus 로고
    • A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome
    • Lüdecke, B., Dworniczak, B., and Bartholomé, K. (1995). A point mutation in the tyrosine hydroxylase gene associated with Segawa's syndrome. Hum. Genet. 95, 123-125.
    • (1995) Hum. Genet. , vol.95 , pp. 123-125
    • Lüdecke, B.1    Dworniczak, B.2    Bartholomé, K.3
  • 51
    • 0342749845 scopus 로고    scopus 로고
    • High penetrance and remarkable variation in expression of GCH 1 mutations in German DRD families
    • Müller, U., Weber, Y., and Martinitus, J. (1998). High penetrance and remarkable variation in expression of GCH 1 mutations in German DRD families. Ann. J. Human Genet. 61, Suppl. A, 341.
    • (1998) Ann. J. Human Genet. , vol.61 , Issue.SUPPL. A , pp. 341
    • Müller, U.1    Weber, Y.2    Martinitus, J.3
  • 52
    • 0025990840 scopus 로고
    • Genes for human catecholamine-synthesizing enzymes
    • Nagatsu, T. (1991). Genes for human catecholamine-synthesizing enzymes. Neurosci. Res. 12, 315-345.
    • (1991) Neurosci. Res. , vol.12 , pp. 315-345
    • Nagatsu, T.1
  • 53
    • 9044252959 scopus 로고
    • Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis
    • Nagatsu, T., Levitt, M., and Udenfriend, S. (1964). Tyrosine hydroxylase. The initial step in norepinephrine biosynthesis. J. Biol. Chem. 239, 2910-2917.
    • (1964) J. Biol. Chem. , vol.239 , pp. 2910-2917
    • Nagatsu, T.1    Levitt, M.2    Udenfriend, S.3
  • 54
    • 0026035319 scopus 로고
    • Comparative studies on the structure of tyrosine hydroxylase with those of the enzyme of various mammals
    • Nagatsu, T., and Ichinose, H. (1991). Comparative studies on the structure of tyrosine hydroxylase with those of the enzyme of various mammals. Comp. Biochem. Physiol. 98C, 203-210.
    • (1991) Comp. Biochem. Physiol. , vol.98 C , pp. 203-210
    • Nagatsu, T.1    Ichinose, H.2
  • 56
    • 0033042546 scopus 로고    scopus 로고
    • Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin
    • Nagatsu, T., and Ichinose, H. (1999). Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. Mol. Neurobiol. 19, 79-96.
    • (1999) Mol. Neurobiol. , vol.19 , pp. 79-96
    • Nagatsu, T.1    Ichinose, H.2
  • 57
    • 0033018577 scopus 로고    scopus 로고
    • Neopterin and cytokines in hereditary dystonia and Parkinson's disease
    • Nagatsu, T., Ichinose, H., Mogi, M., and Togari, A. (1999). Neopterin and cytokines in hereditary dystonia and Parkinson's disease. Pteridines 10, 5-13.
    • (1999) Pteridines , vol.10 , pp. 5-13
    • Nagatsu, T.1    Ichinose, H.2    Mogi, M.3    Togari, A.4
  • 58
    • 0021344054 scopus 로고
    • GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia
    • Niederwieser, A., Blau, N., Wang, M., Joller, P., Antarés, M., and Cardesa-Garcia, J. (1984). GTP cyclohydrolase I deficiency, a new enzyme defect causing hyperphenylalaninemia with neopterin, biopterin, dopamine, and serotonin deficiencies and muscular hypotonia. Eur. J. Pediatr. 141, 208-214.
    • (1984) Eur. J. Pediatr. , vol.141 , pp. 208-214
    • Niederwieser, A.1    Blau, N.2    Wang, M.3    Joller, P.4    Antarés, M.5    Cardesa-Garcia, J.6
  • 59
    • 0031777984 scopus 로고    scopus 로고
    • Dopa responsive dystonia with Turner's syndrome: Clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP cyclohydrolase I gene
    • Nitschke, M., Steinberger, D., Heberlein, I., Otto, V., Müller, U., and Vieregge, P. (1998). Dopa responsive dystonia with Turner's syndrome: clinical, genetic, and neuropsychological studies in a family with a new mutation in the GTP cyclohydrolase I gene. J. Neurol. Neurosurg. Psychiatry 64, 806-808.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.64 , pp. 806-808
    • Nitschke, M.1    Steinberger, D.2    Heberlein, I.3    Otto, V.4    Müller, U.5    Vieregge, P.6
  • 60
    • 0023775566 scopus 로고
    • Dopa-responsive dystonia
    • S. Fahn, C.D. Marsden and D.B. Calne, eds. (New York, USA: Raven Press)
    • Nygaard, T.G., Marsden, C.D., and Duvoisin, R.C. (1988). Dopa-responsive dystonia. In: Advances in Neurology, Vol. 50, S. Fahn, C.D. Marsden and D.B. Calne, eds. (New York, USA: Raven Press), pp. 377-384.
    • (1988) Advances in Neurology , vol.50 , pp. 377-384
    • Nygaard, T.G.1    Marsden, C.D.2    Duvoisin, R.C.3
  • 63
    • 0027970910 scopus 로고
    • Cofactor insufficiency in dystonia-parkinsonian syndrome
    • Ozelius, L.J., and Breakfield, X.O. (1994). Cofactor insufficiency in dystonia-parkinsonian syndrome. Nature Genet. 8, 207-209.
    • (1994) Nature Genet. , vol.8 , pp. 207-209
    • Ozelius, L.J.1    Breakfield, X.O.2
  • 66
    • 0032245409 scopus 로고    scopus 로고
    • A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia
    • Sasaki, R., Naito, Y., and Kuzuhara, Z. (1998). A novel de novo point mutation in the GTP cyclohydrolase I gene in a Japanese patient with hereditary progressive and dopa responsive dystonia. J. Neurol. Neurosurg. Psychiatry 65, 947-949.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.65 , pp. 947-949
    • Sasaki, R.1    Naito, Y.2    Kuzuhara, Z.3
  • 67
    • 0000517582 scopus 로고
    • Childhood basal ganglia disease with remarkable response to L-dopa, hereditary basal ganglia disease with marked diurnal fluctuation
    • Tokyo
    • Segawa, M., Ohmi, K., Itoh, S., Aoyama, M., and Hayakawa, H. (1971). Childhood basal ganglia disease with remarkable response to L-dopa, hereditary basal ganglia disease with marked diurnal fluctuation. Shinryo (Tokyo) 24, 667-672.
    • (1971) Shinryo , vol.24 , pp. 667-672
    • Segawa, M.1    Ohmi, K.2    Itoh, S.3    Aoyama, M.4    Hayakawa, H.5
  • 68
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • R. Eldridge and S. Fahn, eds. (New York, USA: Raven Press)
    • Segawa, M., Hosoya, A., Miyagawa, F., Nomura, Y., Imai, H. (1976). Hereditary progressive dystonia with marked diurnal fluctuation. In: Advances in Neurology, Vol. 14, R. Eldridge and S. Fahn, eds. (New York, USA: Raven Press), pp. 215-233.
    • (1976) Advances in Neurology , vol.14 , pp. 215-233
    • Segawa, M.1    Hosoya, A.2    Miyagawa, F.3    Nomura, Y.4    Imai, H.5
  • 69
    • 0032707912 scopus 로고    scopus 로고
    • Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I. In relation to etiology of dopa-responsive dystonia
    • in press
    • Suzuki, T., Ohye, T., Inagaki, H., Nagatsu, T., and Ichinose, H. (1999). Characterization of wild-type and mutants of recombinant human GTP cyclohydrolase I. In relation to etiology of dopa-responsive dystonia. J. Neurochem., in press.
    • (1999) J. Neurochem.
    • Suzuki, T.1    Ohye, T.2    Inagaki, H.3    Nagatsu, T.4    Ichinose, H.5
  • 70
    • 0031958577 scopus 로고    scopus 로고
    • High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia
    • Steinberger, D., Weber, Y., Korinthenberg, R., Deuschl, G., Benecke, R., Martinius, R., and Müller, U. (1998). High penetrance and pronounced variation in expressivity of GCH1 mutations in five families with dopa-responsive dystonia. Ann. Neurol. 43, 634-639.
    • (1998) Ann. Neurol. , vol.43 , pp. 634-639
    • Steinberger, D.1    Weber, Y.2    Korinthenberg, R.3    Deuschl, G.4    Benecke, R.5    Martinius, R.6    Müller, U.7
  • 71
    • 0031956871 scopus 로고    scopus 로고
    • Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene
    • Tamaru, Y., Hirano, M., Ito, H., Kawamura, J., Matsumoto, S., Imai, T., and Ueno, S. (1998). Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene. J. Neurol. Neurosurg. Psychiatry 64, 469-473.
    • (1998) J. Neurol. Neurosurg. Psychiatry , vol.64 , pp. 469-473
    • Tamaru, Y.1    Hirano, M.2    Ito, H.3    Kawamura, J.4    Matsumoto, S.5    Imai, T.6    Ueno, S.7
  • 72
    • 0028910911 scopus 로고
    • The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q
    • Tanaka, H., Endo, K., Tsuji, S., Nygaard, T.G., Weeks, D.E., Nomura, Y., and Segawa, M. (1995). The gene for hereditary progressive dystonia with marked diurnal fluctuation maps to chromosome 14q. Ann. Neurol. 37, 405-408.
    • (1995) Ann. Neurol. , vol.37 , pp. 405-408
    • Tanaka, H.1    Endo, K.2    Tsuji, S.3    Nygaard, T.G.4    Weeks, D.E.5    Nomura, Y.6    Segawa, M.7
  • 73
    • 0028300346 scopus 로고
    • Biochemical and fluorodopa position emission tomographic finding in an asymptomatic carrier of the gene for dopa-responsive dystonia
    • Takahashi, H., Levine, R.A., Galloway, M.P., Snow, B.-J., Calne, D.B., and Nygaard, T.G. (1994). Biochemical and fluorodopa position emission tomographic finding in an asymptomatic carrier of the gene for dopa-responsive dystonia. Ann. Neurol. 35, 354-356.
    • (1994) Ann. Neurol. , vol.35 , pp. 354-356
    • Takahashi, H.1    Levine, R.A.2    Galloway, M.P.3    Snow, B.-J.4    Calne, D.B.5    Nygaard, T.G.6
  • 74
    • 0024388901 scopus 로고
    • Macrophage oxidation of L-arginine to nitric oxide, nitrite, and nitrate. Tetrahydrobiopterin is required as a cofactor
    • Tayeh, M.A., and Marietta, M.A. (1989). Macrophage oxidation of L-arginine to nitric oxide, nitrite, and nitrate. Tetrahydrobiopterin is required as a cofactor. J. Biol. Chem. 264, 19654-19658.
    • (1989) J. Biol. Chem. , vol.264 , pp. 19654-19658
    • Tayeh, M.A.1    Marietta, M.A.2
  • 75
    • 0030877470 scopus 로고    scopus 로고
    • Mutations in the GTP-cyclohydrolase I and 6-pyruvoyltetrahydropterin synthase genes
    • Thöny, B., and Blau, N. (1997). Mutations in the GTP-cyclohydrolase I and 6-pyruvoyltetrahydropterin synthase genes. Hum. Mutat. 10, 11-20.
    • (1997) Hum. Mutat. , vol.10 , pp. 11-20
    • Thöny, B.1    Blau, N.2
  • 77
    • 0018287445 scopus 로고
    • Low CSF hydroxylase cofactor(tetrahydrobiopterin) levels in inherited dystonia
    • Williams, A., Eldridge, R., Levine, R., Lovenberg, W., and Paulson, G. (1979). Low CSF hydroxylase cofactor(tetrahydrobiopterin) levels in inherited dystonia. Lancet 2, 410-411.
    • (1979) Lancet , vol.2 , pp. 410-411
    • Williams, A.1    Eldridge, R.2    Levine, R.3    Lovenberg, W.4    Paulson, G.5
  • 78
    • 0028912476 scopus 로고
    • Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development
    • Zhou, Q.-Y., Quaife, C.J., and Palmiter, R.D. (1995). Targeted disruption of the tyrosine hydroxylase gene reveals that catecholamines are required for mouse fetal development. Nature 374, 640-643.
    • (1995) Nature , vol.374 , pp. 640-643
    • Zhou, Q.-Y.1    Quaife, C.J.2    Palmiter, R.D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.