Multiple transcripts due to alternative splicing of the GTP cyclohydrolase I RNA in dopa-responsive dystonia

被引：0
|
作者：
Hirano, M
Imaiso, Y
Ueno, S
机构：
来源：
ANNALS OF NEUROLOGY | 1997年 / 42卷 / 03期
关键词：
D O I：
暂无
中图分类号：
R74 [神经病学与精神病学];
学科分类号：
摘要：
引用
收藏
页码：M59 / M59
页数：1
相关论文
共 50 条
  • [41] A novel mutation in the GTP cyclohydrolase I gene associated with a broad range of clinical presentations in a family with autosomal dominant dopa-responsive dystonia
    Markova, ED
    Slominsky, PA
    Illarioshkin, SN
    Miklina, NI
    Popova, SN
    Limborska, SA
    Ivanova-Smolenskaya, IA
    EUROPEAN JOURNAL OF NEUROLOGY, 1999, 6 (05) : 605 - 608
  • [42] SUCCESSFUL PREGNANCY IN A NEW PATIENT WITH EARLY ONSET DOPA-RESPONSIVE DYSTONIA DUE TO AUTOSOMAL RECESSIVE GTP CYCLOHYDROLASE (AR GTP-CH) DEFICIENCY WITHOUT HYPERPHENYLALANINEMIA
    D'Agnano, D.
    Carducci, C.
    Carducci, C.
    Leuzzi, V
    JOURNAL OF INHERITED METABOLIC DISEASE, 2012, 35 : S139 - S139
  • [43] Two novel mutations of the GTP cyclohydrolase 1 gene and genotype–phenotype correlation in Chinese Dopa-responsive dystonia patients
    Lihua Yu
    Huayong Zhou
    Fayun Hu
    Yanming Xu
    European Journal of Human Genetics, 2013, 21 : 731 - 735
  • [44] Mutation in intron 5 of GTP cyclohydrolase 1 gene causes dopa-responsive dystonia (Segawa syndrome) in a Brazilian family
    Souza, C. P.
    Valadares, E. R.
    Trindade, A. L. C.
    Rocha, V. L.
    Oliveira, L. R.
    Godard, A. L. B.
    GENETICS AND MOLECULAR RESEARCH, 2008, 7 (03) : 687 - 694
  • [45] Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia
    Theuns, Jessie
    Crosiers, David
    Debaene, Luc
    Nuytemans, Karen
    Meeus, Bram
    Sleegers, Kristel
    Goossens, Dirk
    Corsmit, Ellen
    Elinck, Ellen
    Peeters, Karin
    Mattheijssens, Maria
    Pickut, Barbara
    Del-Favero, Jurgen
    Engelborghs, Sebastiaan
    De Deyn, Peter Paul
    Cras, Patrick
    Van Broeckhoven, Christine
    MOVEMENT DISORDERS, 2012, 27 (11) : 1451 - 1456
  • [46] 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
    ITO, H
    IMAI, T
    UENO, S
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1995, 213 (02) : 645 - 651
  • [47] Mutations in human GTP Cyclohydrolase I, enzyme responsible for DOPA-Responsive Dystonia: localization in a 3D model and functional evaluation in yeast.
    Viscardi, V
    Fabozzi, D
    Saracino, F
    Tasco, G
    Casadio, R
    Carbone, MLA
    YEAST, 2001, 18 : S311 - S311
  • [48] Acute BH4 administration corrects the brain NO/cGMP pathway in the GTP-cyclohydrolase I deficient mouse;: Implications for dopa-responsive dystonia
    Canevari, L
    Land, JM
    Clark, JB
    Heales, SJR
    JOURNAL OF NEUROCHEMISTRY, 1999, 73 : S205 - S205
  • [49] Dopa-responsive dystonia due to mild tyrosine hydroxylase deficiency
    Furukawa, Y
    Kish, SJ
    Fahn, S
    ANNALS OF NEUROLOGY, 2004, 55 (01) : 147 - 148
  • [50] Dopa-Responsive Dystonia: Guanosine Triphosphate Cyclohydrolase 1, Tyrosine Hydroxylase, and Sepiapterin Reductase
    Pitton, Jamir
    Fornari Caprara, Ana Leticia
    IBNOSINA JOURNAL OF MEDICINE AND BIOMEDICAL SCIENCES, 2021, 13 (01): : 44 - 45
12345