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109 related items for PubMed ID: 20937667

  • 1. Endothelial, sympathetic, and cardiac function in inherited (6R)-L-erythro-5,6,7,8-tetrahydro-L-biopterin deficiency.
    Mayahi L, Mason L, Bleasdale-Barr K, Donald A, Trender-Gerhard I, Sweeney MG, Davis MB, Wood N, Mathias CJ, Watson L, Pellerin D, Heales S, Deanfield JE, Bhatia K, Murray-Rust J, Hingorani AD.
    Circ Cardiovasc Genet; 2010 Dec; 3(6):513-22. PubMed ID: 20937667
    [Abstract] [Full Text] [Related]

  • 2. [Dopa-responsive dystonia: clinical, genetic, and biochemical studies].
    Furukawa Y.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):19-34. PubMed ID: 16541791
    [Abstract] [Full Text] [Related]

  • 3. Gene transfer of human guanosine 5'-triphosphate cyclohydrolase I restores vascular tetrahydrobiopterin level and endothelial function in low renin hypertension.
    Zheng JS, Yang XQ, Lookingland KJ, Fink GD, Hesslinger C, Kapatos G, Kovesdi I, Chen AF.
    Circulation; 2003 Sep 09; 108(10):1238-45. PubMed ID: 12925450
    [Abstract] [Full Text] [Related]

  • 4. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia.
    Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, Landrieu P, Nguyen K, Ponsot G, Abada M, Doummar D, Damier P, Gil R, Thobois S, Ward AJ, Hutchinson M, Toutain A, Picard F, Camuzat A, Fedirko E, Sân C, Bouteiller D, LeGuern E, Durr A, Vidailhet M, Brice A, French Dystonia Network.
    Brain; 2009 Jul 09; 132(Pt 7):1753-63. PubMed ID: 19491146
    [Abstract] [Full Text] [Related]

  • 5. (6R)-5,6,7,8-tetrahydro-L-biopterin and its stereoisomer prevent ischemia reperfusion injury in human forearm.
    Mayahi L, Heales S, Owen D, Casas JP, Harris J, MacAllister RJ, Hingorani AD.
    Arterioscler Thromb Vasc Biol; 2007 Jun 09; 27(6):1334-9. PubMed ID: 17413035
    [Abstract] [Full Text] [Related]

  • 6. Metabolism of tetrahydrobiopterin: its relevance in monoaminergic neurons and neurological disorders.
    Ichinose H, Nomura T, Sumi-Ichinose C.
    Chem Rec; 2008 Jun 09; 8(6):378-85. PubMed ID: 19107867
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations in the guanosine triphosphate cyclohydrolase 1 gene associated with DYT5 dystonia.
    Ohta E, Funayama M, Ichinose H, Toyoshima I, Urano F, Matsuo M, Tomoko N, Yukihiko K, Yoshino S, Yokoyama H, Shimazu H, Maeda K, Hasegawa K, Obata F.
    Arch Neurol; 2006 Nov 09; 63(11):1605-10. PubMed ID: 17101830
    [Abstract] [Full Text] [Related]

  • 8. The neurobiology of tetrahydrobiopterin biosynthesis: a model for regulation of GTP cyclohydrolase I gene transcription within nigrostriatal dopamine neurons.
    Kapatos G.
    IUBMB Life; 2013 Apr 09; 65(4):323-33. PubMed ID: 23457032
    [Abstract] [Full Text] [Related]

  • 9. Validating the GTP-cyclohydrolase 1-feedback regulatory complex as a therapeutic target using biophysical and in vivo approaches.
    Hussein D, Starr A, Heikal L, McNeill E, Channon KM, Brown PR, Sutton BJ, McDonnell JM, Nandi M.
    Br J Pharmacol; 2015 Aug 09; 172(16):4146-57. PubMed ID: 26014146
    [Abstract] [Full Text] [Related]

  • 10. Augmented BH4 by gene transfer restores nitric oxide synthase function in hyperglycemic human endothelial cells.
    Cai S, Khoo J, Channon KM.
    Cardiovasc Res; 2005 Mar 01; 65(4):823-31. PubMed ID: 15721862
    [Abstract] [Full Text] [Related]

  • 11. Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
    Thöny B, Blau N.
    Hum Mutat; 2006 Sep 01; 27(9):870-8. PubMed ID: 16917893
    [Abstract] [Full Text] [Related]

  • 12. Early replacement therapy in a first Japanese case with autosomal recessive guanosine triphosphate cyclohydrolase I deficiency with a novel point mutation.
    Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S.
    Brain Dev; 2014 Mar 01; 36(3):268-71. PubMed ID: 23660475
    [Abstract] [Full Text] [Related]

  • 13. GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function.
    Antoniades C, Shirodaria C, Van Assche T, Cunnington C, Tegeder I, Lötsch J, Guzik TJ, Leeson P, Diesch J, Tousoulis D, Stefanadis C, Costigan M, Woolf CJ, Alp NJ, Channon KM.
    J Am Coll Cardiol; 2008 Jul 08; 52(2):158-65. PubMed ID: 18598896
    [Abstract] [Full Text] [Related]

  • 14. [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation].
    Ye J, Liu XQ, Qiu WJ, Han LS, Zhou JD, Zhang YF, Gu XF.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Apr 08; 24(2):210-2. PubMed ID: 17407085
    [Abstract] [Full Text] [Related]

  • 15. A requirement for Gch1 and tetrahydrobiopterin in embryonic development.
    Douglas G, Hale AB, Crabtree MJ, Ryan BJ, Hansler A, Watschinger K, Gross SS, Lygate CA, Alp NJ, Channon KM.
    Dev Biol; 2015 Mar 01; 399(1):129-138. PubMed ID: 25557619
    [Abstract] [Full Text] [Related]

  • 16. Localization of GTP cyclohydrolase in monoaminergic but not nitric oxide-producing cells.
    Hwang O, Baker H, Gross S, Joh TH.
    Synapse; 1998 Feb 01; 28(2):140-53. PubMed ID: 9450514
    [Abstract] [Full Text] [Related]

  • 17. Role of nuclear factor kappa B in cytokine-induced nitric oxide and tetrahydrobiopterin synthesis in rat neonatal cardiac myocytes.
    Hattori Y, Nakanishi N, Kasai K.
    J Mol Cell Cardiol; 1997 Jun 01; 29(6):1585-92. PubMed ID: 9220344
    [Abstract] [Full Text] [Related]

  • 18. A novel GTPCH deficiency mouse model exhibiting tetrahydrobiopterin-related metabolic disturbance and infancy-onset motor impairments.
    Jiang X, Liu H, Shao Y, Peng M, Zhang W, Li D, Li X, Cai Y, Tan T, Lu X, Xu J, Su X, Lin Y, Liu Z, Huang Y, Zeng C, Tang YP, Liu L.
    Metabolism; 2019 May 01; 94():96-104. PubMed ID: 30742839
    [Abstract] [Full Text] [Related]

  • 19. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
    Thöny B, Blau N.
    Hum Mutat; 1997 May 01; 10(1):11-20. PubMed ID: 9222755
    [Abstract] [Full Text] [Related]

  • 20. Increased endothelial tetrahydrobiopterin synthesis by targeted transgenic GTP-cyclohydrolase I overexpression reduces endothelial dysfunction and atherosclerosis in ApoE-knockout mice.
    Alp NJ, McAteer MA, Khoo J, Choudhury RP, Channon KM.
    Arterioscler Thromb Vasc Biol; 2004 Mar 01; 24(3):445-50. PubMed ID: 14707037
    [Abstract] [Full Text] [Related]

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