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Volumn 40, Issue 5, 1996, Pages 796-798

Mutant GTP cyclohydrolase I mRNA levels contribute to dopa-responsive dystonia onset

Author keywords

[No Author keywords available]

Indexed keywords

DOPAMINE; HYDROLASE;

EID: 0029829711     PISSN: 03645134     EISSN: None     Source Type: Journal    
DOI: 10.1002/ana.410400517     Document Type: Article
Times cited : (45)

References (15)
  • 1
    • 0016906737 scopus 로고
    • Dystonia: An overview
    • Zeman W. Dystonia: an overview. Adv Neurol 1976;14:91-103
    • (1976) Adv Neurol , vol.14 , pp. 91-103
    • Zeman, W.1
  • 2
    • 0028151448 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
    • Ichinose H, Ohye T, Takahashi E, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nature Genet 1994;8:236-242
    • (1994) Nature Genet , vol.8 , pp. 236-242
    • Ichinose, H.1    Ohye, T.2    Takahashi, E.3
  • 3
    • 0029162075 scopus 로고
    • Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia
    • Hirano M, Tamaru Y, Nagai Y, et al. Exon skipping caused by a base substitution at a splice site in the GTP cyclohydrolase I gene in a Japanese family with hereditary progressive dystonia/dopa responsive dystonia. Biochem Biophys Res Commun 1995;213:645-651
    • (1995) Biochem Biophys Res Commun , vol.213 , pp. 645-651
    • Hirano, M.1    Tamaru, Y.2    Nagai, Y.3
  • 4
    • 0029093393 scopus 로고
    • GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation
    • Ichinose H, Ohye T, Segawa M, et al. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett 1995;196:5-8
    • (1995) Neurosci Lett , vol.196 , pp. 5-8
    • Ichinose, H.1    Ohye, T.2    Segawa, M.3
  • 5
    • 0016913614 scopus 로고
    • Hereditary progressive dystonia with marked diurnal fluctuation
    • Segawa M, Hosaka A, Miyagawa F, et al. Hereditary progressive dystonia with marked diurnal fluctuation. Adv Neurol 1976;14:215-233
    • (1976) Adv Neurol , vol.14 , pp. 215-233
    • Segawa, M.1    Hosaka, A.2    Miyagawa, F.3
  • 6
    • 0027354029 scopus 로고
    • Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis
    • Nygaard TG. Dopa-responsive dystonia. Delineation of the clinical syndrome and clues to pathogenesis. Adv Neurol 1993; 60:577-585
    • (1993) Adv Neurol , vol.60 , pp. 577-585
    • Nygaard, T.G.1
  • 7
    • 0028902943 scopus 로고
    • Characterization of mouse and human GTP cyclohydrolase I genes
    • Ichinose H, Ohye T, Matsuda Y, et al. Characterization of mouse and human GTP cyclohydrolase I genes. J Biol Chem 1995;270:10062-10071
    • (1995) J Biol Chem , vol.270 , pp. 10062-10071
    • Ichinose, H.1    Ohye, T.2    Matsuda, Y.3
  • 8
    • 0029644734 scopus 로고
    • Atomic structure of GTP cyclohydrolase I
    • Nar H, Huber R, Meining W, et al. Atomic structure of GTP cyclohydrolase I. Structure 1995;3:459-466
    • (1995) Structure , vol.3 , pp. 459-466
    • Nar, H.1    Huber, R.2    Meining, W.3
  • 9
    • 0029148315 scopus 로고
    • Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers
    • Maier J, Witter K, Gütlich M, et al. Homology cloning of GTP-cyclohydrolase I from various unrelated eukaryotes by reverse-transcription polymerase chain reaction using a general set of degenerate primers. Biochem Biophys Res Commun 1995;212:705-711
    • (1995) Biochem Biophys Res Commun , vol.212 , pp. 705-711
    • Maier, J.1    Witter, K.2    Gütlich, M.3
  • 10
    • 0028106435 scopus 로고
    • Pathophysiology of sodium channelopathies: Correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis
    • Zhou J, Spier SJ, Beech J, et al. Pathophysiology of sodium channelopathies: correlation of normal/mutant mRNA ratios with clinical phenotype in dominantly inherited periodic paralysis. Hum Mol Genet 1994;3:1599-1603
    • (1994) Hum Mol Genet , vol.3 , pp. 1599-1603
    • Zhou, J.1    Spier, S.J.2    Beech, J.3
  • 11
    • 0027329008 scopus 로고
    • Dominant negative mutations of the scavenger receptor
    • Dejager S, Mietus-Snyder M, Friera A, et al. Dominant negative mutations of the scavenger receptor. J Clin Invest 1993; 92:894-902
    • (1993) J Clin Invest , vol.92 , pp. 894-902
    • Dejager, S.1    Mietus-Snyder, M.2    Friera, A.3
  • 12
    • 0028032140 scopus 로고
    • Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen)
    • Steinmeyer K, Lorenz C, Pusch M, et al. Multimeric structure of CIC-1 chloride channel revealed by mutations in dominant myotonia congenita (Thomsen). EMBO J 1994;13:737-743
    • (1994) EMBO J , vol.13 , pp. 737-743
    • Steinmeyer, K.1    Lorenz, C.2    Pusch, M.3
  • 13
    • 0025741334 scopus 로고
    • An analysis of lymphocyte 3H-N-methyl-scopolamine binding in neurological patients
    • Ferrero P, Rocca P, Eva C, et al. An analysis of lymphocyte 3H-N-methyl-scopolamine binding in neurological patients. Brain 1991;114:1759-1770
    • (1991) Brain , vol.114 , pp. 1759-1770
    • Ferrero, P.1    Rocca, P.2    Eva, C.3
  • 14
    • 0022872116 scopus 로고
    • Cholinergic muscarinic binding by rat lymphocytes: Effects of antagonist treatment, strain and aging
    • Shenkman L, Rabey JM, Gilad GM. Cholinergic muscarinic binding by rat lymphocytes: effects of antagonist treatment, strain and aging. Brain Res 1986;380:303-308
    • (1986) Brain Res , vol.380 , pp. 303-308
    • Shenkman, L.1    Rabey, J.M.2    Gilad, G.M.3
  • 15
    • 0027239630 scopus 로고
    • Expression of the D3 dopamine receptor gene and a novel variant transcript generated by alternative splicing in human peripheral blood lymphocytes
    • Nagai Y, Ueno S, Saeki Y, et al. Expression of the D3 dopamine receptor gene and a novel variant transcript generated by alternative splicing in human peripheral blood lymphocytes. Biochem Biophys Res Commun 1993;194:368-374
    • (1993) Biochem Biophys Res Commun , vol.194 , pp. 368-374
    • Nagai, Y.1    Ueno, S.2    Saeki, Y.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.