Literature DB >> 7501255

GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation.

H Ichinose1, T Ohye, M Segawa, Y Nomura, K Endo, H Tanaka, S Tsuji, K Fujita, T Nagatsu.   

Abstract

We previously reported four different mutations in the coding region of GTP cyclohydrolase I (GCH-I) gene in patients with hereditary progressive dystonia with marked diurnal fluctuation (HPD). We found two independent new mutations (leucine 79 proline and a deletion in exon 4) in patients with HPD. We also found four families of HPD without any mutations in the coding region of GCH-I gene.

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Year:  1995        PMID： 7501255     DOI： 10.1016/0304-3940(95)11820-m

Source DB:  PubMed          Journal:  Neurosci Lett        ISSN： 0304-3940            Impact factor:   3.046


  7 in total

1.  Oral phenylalanine loading profiles in symptomatic and asymptomatic gene carriers with dopa-responsive dystonia due to dominantly inherited GTP cyclohydrolase deficiency.

Authors:  K Hyland; T G Nygaard; J M Trugman; K J Swoboda; L A Arnold; S P Sparagana
Journal:  J Inherit Metab Dis       Date:  1999-05       Impact factor: 4.982

2.  GTP cyclohydrolase I mutations in patients with dystonia responsive to anticholinergic drugs.

Authors:  P R Jarman; O Bandmann; C D Marsden; N W Wood
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-09       Impact factor: 10.154

Review 3.  GTP cyclohydrolase I gene, tetrahydrobiopterin, and tyrosine hydroxylase gene: their relations to dystonia and parkinsonism.

Authors:  T Nagatsu; H Ichinose
Journal:  Neurochem Res       Date:  1996-02       Impact factor: 3.996

4.  Clinical similarities of hereditary progressive/dopa responsive dystonia caused by different types of mutations in the GTP cyclohydrolase I gene.

Authors:  Y Tamaru; M Hirano; H Ito; J Kawamura; S Matsumoto; T Imai; S Ueno
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-04       Impact factor: 10.154

Review 5.  Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin.

Authors:  T Nagatsu; H Ichinose
Journal:  Mol Neurobiol       Date:  1999-02       Impact factor: 5.590

Review 6.  The neurobiological basis for novel experimental therapeutics in dystonia.

Authors:  Anthony M Downs; Kaitlyn M Roman; Simone A Campbell; Antonio Pisani; Ellen J Hess; Paola Bonsi
Journal:  Neurobiol Dis       Date:  2019-07-04       Impact factor: 5.996

Review 7.  Molecular biology of catecholamine-related enzymes in relation to Parkinson's disease.

Authors:  T Nagatsu; H Ichinose
Journal:  Cell Mol Neurobiol       Date:  1999-02       Impact factor: 5.046
  7 in total

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