Gene Symbol: GCH1
Description: GTP cyclohydrolase 1
Alias: DYT14, DYT5, DYT5a, GCH, GTP-CH-1, GTPCH1, HPABH4B, GTP cyclohydrolase 1, GTP cyclohydrolase I, GTP-CH-I, dystonia 14, guanosine 5'-triphosphate cyclohydrolase I
Species: human
Products:     GCH1

Top Publications

  1. Campbell C, Edwards R, Carmona C, Uhart M, Wand G, Carteret A, et al. Polymorphisms in the GTP cyclohydrolase gene (GCH1) are associated with ratings of capsaicin pain. Pain. 2009;141:114-8 pubmed publisher
    ..While recent data suggest a "protective" (i.e., less pain) haplotype in the GTP cyclohydrolase (GCH1) gene, other research has failed to confirm this association...
  2. Lee J, Yang H, Kim J, Jeon B. Novel GCH-1 mutations and unusual long-lasting dyskinesias in Korean families with dopa-responsive dystonia. Parkinsonism Relat Disord. 2013;19:1156-9 pubmed publisher
    ..To describe the long-term follow-up data of Korean patients with GTP cyclohydrolase (GTPCH) I deficient dopa-responsive dystonia (DRD) with novel mutations and unusual long-lasting dyskinesias...
  3. Kim D, Dai F, Belfer I, Banco R, Martha J, Tighiouart H, et al. Polymorphic variation of the guanosine triphosphate cyclohydrolase 1 gene predicts outcome in patients undergoing surgical treatment for lumbar degenerative disc disease. Spine (Phila Pa 1976). 2010;35:1909-14 pubmed publisher
    ..To determine whether polymorphic variations of the guanosine triphosphate (GTP) cyclohydrolase 1 gene (GCH1) are associated with different outcomes in patients undergoing surgical treatment for lumbar degenerative disc ..
  4. Hjermind L, Johannsen L, Blau N, Wevers R, Lucking C, Hertz J, et al. Dopa-responsive dystonia and early-onset Parkinson's disease in a patient with GTP cyclohydrolase I deficiency?. Mov Disord. 2006;21:679-82 pubmed
    ..Paraclinical studies revealed a mutation in the GTP cyclohydrolase I gene (GCH1) and a decrease in [123I]-N-omega-fluoropropyl-2beta-carbomethoxy-3beta-(4-iodophenyl) ..
  5. Zhang L, Rao F, Zhang K, Khandrika S, Das M, Vaingankar S, et al. Discovery of common human genetic variants of GTP cyclohydrolase 1 (GCH1) governing nitric oxide, autonomic activity, and cardiovascular risk. J Clin Invest. 2007;117:2658-71 pubmed
    b>GTP cyclohydrolase 1 (GCH1) is rate limiting in the provision of the cofactor tetrahydrobiopterin for biosynthesis of catecholamines and NO...
  6. Grötzsch H, Pizzolato G, Ghika J, Schorderet D, Vingerhoets F, Landis T, et al. Neuropathology of a case of dopa-responsive dystonia associated with a new genetic locus, DYT14. Neurology. 2002;58:1839-42 pubmed
    ..are reported for a patient with dopa-responsive dystonia genetically related to the dopa-responsive dystonia locus DYT14 on chromosome 14q13...
  7. Muller U, Steinberger D, Topka H. Mutations of GCH1 in Dopa-responsive dystonia. J Neural Transm (Vienna). 2002;109:321-8 pubmed
    ..GCH1 codes for GTP cyclohydrolase I, a rate limiting enzyme in the synthesis of tetrahydrobiobterin (BH(4)) from GTP...
  8. Brique S, Destee A, Lambert J, Mouroux V, Delacourte A, Amouyel P, et al. A new GTP-cyclohydrolase I mutation in an unusual dopa-responsive dystonia, familial form. Neuroreport. 1999;10:487-91 pubmed
    ..The clinical evolution was heterogeneous among carriers of the same mutation, underlining the involvement of other determinants modulating the occurrence of the disease such as genetic or environmental susceptibility factors. ..
  9. Lazarev M, Lamb J, Barmada M, Dai F, Anderson M, Max M, et al. Does the pain-protective GTP cyclohydrolase haplotype significantly alter the pattern or severity of pain in humans with chronic pancreatitis?. Mol Pain. 2008;4:58 pubmed publisher
    ..Since genetic variations in the GTP cyclohydrolase (GCH1) gene have been reported to protect some patients from pain, we investigated the effect of the "pain ..

More Information


  1. Zirn B, Steinberger D, Troidl C, Brockmann K, von der Hagen M, Feiner C, et al. Frequency of GCH1 deletions in Dopa-responsive dystonia. J Neurol Neurosurg Psychiatry. 2008;79:183-6 pubmed
    We performed a systematic study on the frequency of point mutations and deletions of the gene GCH1 in dopa-responsive dystonia (DRD). A total of 136 dystonia patients were studied...
  2. Cobb S, Wider C, Ross O, Mata I, Adler C, Rajput A, et al. GCH1 in early-onset Parkinson's disease. Mov Disord. 2009;24:2070-5 pubmed publisher
    Mutations in GTP-cyclohydrolase 1 (GCH1) cause autosomal dominant dopa-responsive dystonia (DRD), characterized by childhood-onset foot dystonia that later generalizes. DRD patients frequently present with associated Parkinsonism...
  3. Mencacci N, Isaias I, Reich M, Ganos C, Plagnol V, Polke J, et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain. 2014;137:2480-92 pubmed publisher
    b>GTP cyclohydrolase 1, encoded by the GCH1 gene, is an essential enzyme for dopamine production in nigrostriatal cells...
  4. Ichinose H, Ohye T, Matsuda Y, Hori T, Blau N, Burlina A, et al. Characterization of mouse and human GTP cyclohydrolase I genes. Mutations in patients with GTP cyclohydrolase I deficiency. J Biol Chem. 1995;270:10062-71 pubmed
    b>GTP cyclohydrolase I is the first and rate-limiting enzyme for the biosynthesis of tetrahydrobiopterin in mammals. Previously, we reported three species of human GTP cyclohydrolase I cDNA in a human liver cDNA library (Togari, A...
  5. Lotsch J, Klepstad P, Doehring A, Dale O. A GTP cyclohydrolase 1 genetic variant delays cancer pain. Pain. 2010;148:103-6 pubmed publisher
    ..7+/-13.9) for association of a reduced-function haplotype in the GTP cyclohydrolase 1 (GCH1) gene with cancer pain therapy...
  6. Doehring A, Antoniades C, Channon K, Tegeder I, Lotsch J. Clinical genetics of functionally mild non-coding GTP cyclohydrolase 1 (GCH1) polymorphisms modulating pain and cardiovascular risk. Mutat Res. 2008;659:195-201 pubmed publisher
    Guanosine triphosphate cyclohydrolase 1 (GCH1) is the first enzyme in the tetrahydrobiopterin (BH4) biosynthesis, an important co-factor for the formation of nitric oxide, biogenic amines and serotonin...
  7. Steinberger D, Trübenbach J, Zirn B, Leube B, Wildhardt G, Muller U. Utility of MLPA in deletion analysis of GCH1 in dopa-responsive dystonia. Neurogenetics. 2007;8:51-5 pubmed
    ..to patients from three families with characteristic dopa-responsive dystonia (DRD) but no base change in the gene GCH1. We found a complete deletion of GCH1 in affected members of family 1, and partial deletions in affected ..
  8. Weber Y, Steinberger D, Deuschl G, Benecke R, Muller U. Two previously unrecognized splicing mutations of GCH1 in Dopa-responsive dystonia: exon skipping and one base insertion. Neurogenetics. 1997;1:125-7 pubmed
    We describe two previously unrecognized splice site mutations of GCH1 in Dopa responsive dystonia (DRD). Both mutations affect consensus splice acceptor (AG) sites...
  9. Tassin J, Durr A, Bonnet A, Gil R, Vidailhet M, Lücking C, et al. Levodopa-responsive dystonia. GTP cyclohydrolase I or parkin mutations?. Brain. 2000;123 ( Pt 6):1112-21 pubmed
    ..No mutations were identified in seven families. The clinical spectrum extended from the classical DRD phenotype to parkinsonism with levodopa-induced dyskinesias, and included spastic paraplegia as well as the absence of dystonia. ..
  10. Leuzzi V, Carducci C, Carducci C, Cardona F, Artiola C, Antonozzi I. Autosomal dominant GTP-CH deficiency presenting as a dopa-responsive myoclonus-dystonia syndrome. Neurology. 2002;59:1241-3 pubmed
    ..In the paternal branch, the grandfather and three relatives had myoclonus-dystonia and resting or postural tremor of limbs. The authors found a missense mutation in the exon 6 of GCH-1 gene (K224R).
  11. Liao Y, Zeng T, Chen L, Li Y, Yu F, Hu L, et al. Association of a functional polymorphism (C59038T) in GTP cyclohydrolase 1 gene and Type 2 diabetic macrovascular disease in the Chinese population. J Diabetes Complications. 2010;24:313-9 pubmed publisher
    ..C59038T polymorphism in GTP cyclohydrolase 1 (GCH1) gene is a functional mutation involved in NO metabolism and cardiovascular risk in a multiethnic ..
  12. Hertz J, Ostergaard K, Juncker I, Pedersen S, Romstad A, Møller L, et al. Low frequency of Parkin, Tyrosine Hydroxylase, and GTP Cyclohydrolase I gene mutations in a Danish population of early-onset Parkinson's Disease. Eur J Neurol. 2006;13:385-90 pubmed
    ..Analysis of the GTP cyclohydrolase I gene (GCH1) and the tyrosine hydroxylase gene (TH), mutated in dopa-responsive dystonia and juvenile PD, ..
  13. Trender Gerhard I, Sweeney M, Schwingenschuh P, Mir P, Edwards M, Gerhard A, et al. Autosomal-dominant GTPCH1-deficient DRD: clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009;80:839-45 pubmed publisher
    An autosomal dominantly inherited defect in the GCH1 gene that encodes guanosine triphosphate cyclohydrolase 1 (GTPCH1) is the most common cause of dopa-responsive dystonia (DRD)...
  14. Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, et al. Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet. 1994;8:236-42 pubmed
    ..Recently the gene for dopa responsive dystonia (DRD) was mapped to chromosome 14q. Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2...
  15. Theuns J, Crosiers D, Debaene L, Nuytemans K, Meeus B, Sleegers K, et al. Guanosine triphosphate cyclohydrolase 1 promoter deletion causes dopa-responsive dystonia. Mov Disord. 2012;27:1451-6 pubmed publisher
    Autosomal dominant dopa-responsive dystonia (AD-DRD) is caused by a biochemical defect primarily resulting from guanosine triphosphate cyclohydrolase 1 gene (GCH1) mutations. Few families have been reported without mutations in GCH1.
  16. Gesierich A, Niroomand F, Tiefenbacher C. Role of human GTP cyclohydrolase I and its regulatory protein in tetrahydrobiopterin metabolism. Basic Res Cardiol. 2003;98:69-75 pubmed
    b>GTP cyclohydrolase I (GTPCH I) catalyzes the de novo biosynthesis of tetrahydrobiopterin (BH(4)), an essential cofactor of NO-synthase. The enzyme underlies negative feedback regulation by the end product BH(4)...
  17. Tachi N, Takahashi S, Jo M, Shinoda M. A new mutation of GCH1 in triplets family with dopa-responsive dystonia. Eur J Neurol. 2011;18:1191-3 pubmed publisher
    Dopa-responsive dystonia (DRD) is associated with mutations of the GCH1. We first report four female siblings with DRD from one family, including three monozygotic triplets patients clinically and genetically...
  18. Witter K, Werner T, Blusch J, Schneider E, Riess O, Ziegler I, et al. Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I. Gene. 1996;171:285-90 pubmed
    We have identified a genomic clone containing the 5' regulatory region of the gene GTP-CH encoding human GTP cyclohydrolase I. The transcription start point (tsp) was mapped by 5'-rapid amplification of cDNA ends (5'-RACE). The 2...
  19. Tegeder I, Adolph J, Schmidt H, Woolf C, Geisslinger G, Lotsch J. Reduced hyperalgesia in homozygous carriers of a GTP cyclohydrolase 1 haplotype. Eur J Pain. 2008;12:1069-77 pubmed publisher
    Carriers of a particular haplotype of the GTP cyclohydrolase gene (GCH1) had less pain after surgery for chronic lumbar radiculopathy and a decreased sensitivity to some experimental mechanical pain stimuli...
  20. Clot F, Grabli D, Cazeneuve C, Roze E, Castelnau P, Chabrol B, et al. Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. Brain. 2009;132:1753-63 pubmed publisher
    ..Dopa-responsive dystonia is mostly caused by autosomal dominant mutations in the GCH1 gene (GTP cyclohydrolase1) and more rarely by autosomal recessive mutations in the TH (tyrosine hydroxylase) or SPR ..
  21. Kim H, Dionne R. Lack of influence of GTP cyclohydrolase gene (GCH1) variations on pain sensitivity in humans. Mol Pain. 2007;3:6 pubmed
    To assess the effect of variations in GTP cyclohydrolase gene (GCH1) on pain sensitivity in humans. Thermal and cold pain sensitivity were evaluated in a cohort of 735 healthy volunteers...
  22. Tu Y, Ding H, Wang X, Xu Y, Zhang L, Huang C, et al. Exploring epistatic relationships of NO biosynthesis pathway genes in susceptibility to CHD. Acta Pharmacol Sin. 2010;31:874-80 pubmed publisher
    ..001 for both). No significant high-order interactions were identified. The results suggested that two-way SNP-SNP interactions of polymorphisms within NO biosynthesis pathway genes contribute to CHD risk. ..
  23. Bandmann O, Valente E, Holmans P, Surtees R, Walters J, Wevers R, et al. Dopa-responsive dystonia: a clinical and molecular genetic study. Ann Neurol. 1998;44:649-56 pubmed
    We have studied the GTP-cyclohydrolase 1 (GCH-1) gene in 30 patients with the diagnosis of clinically definite (n = 20) or possible (n = 10) dopa-responsive dystonia (DRD) as well as in a child with atypical phenylketonuria due to ..
  24. Wider C, Melquist S, Hauf M, Solida A, Cobb S, Kachergus J, et al. Study of a Swiss dopa-responsive dystonia family with a deletion in GCH1: redefining DYT14 as DYT5. Neurology. 2008;70:1377-83 pubmed
    ..Genetic analysis included a genome-wide linkage study with microsatellite markers (STR), GTP cyclohydrolase I (GCH1) gene sequencing, and dosage analysis...
  25. Bandmann O, Nygaard T, Surtees R, Marsden C, Wood N, Harding A. Dopa-responsive dystonia in British patients: new mutations of the GTP-cyclohydrolase I gene and evidence for genetic heterogeneity. Hum Mol Genet. 1996;5:403-6 pubmed
    ..Recently the GTP cyclohydrolase I (GTPCH) gene was isolated as the first causative gene for dopa-responsive dystonia (DRD)...
  26. Holliday K, Nicholl B, Macfarlane G, Thomson W, Davies K, McBeth J. Do genetic predictors of pain sensitivity associate with persistent widespread pain?. Mol Pain. 2009;5:56 pubmed publisher
    ..study was to determine if proposed functional single nucleotide polymorphisms (SNPs) in the GTP cyclohydrolase (GCH1) and mu opioid receptor (OPRM1) genes previously associated with pain sensitivity affect susceptibility to chronic ..
  27. Antoniades C, Shirodaria C, Van Assche T, Cunnington C, Tegeder I, Lotsch J, et al. GCH1 haplotype determines vascular and plasma biopterin availability in coronary artery disease effects on vascular superoxide production and endothelial function. J Am Coll Cardiol. 2008;52:158-65 pubmed publisher
    ..GTP-cyclohydrolase I, encoded by the GCH1 gene, is the rate-limiting enzyme in the biosynthesis of BH4, an eNOS cofactor important for maintaining enzymatic ..
  28. Garavaglia B, Invernizzi F, Carbone M, Viscardi V, Saracino F, Ghezzi D, et al. GTP-cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP-CH1 deficiency: identification and functional characterization of four novel mutations. J Inherit Metab Dis. 2004;27:455-63 pubmed
    GTP-cyclohydrolase I (GTP-CH1, EC is encoded by the GCH1 gene. Mutations in the GCH1 gene cause both dopa-responsive dystonia (McKusick 128230) and recessive GTP-CH1 deficiency (McKusick 600225)...
  29. Lotsch J, Belfer I, Kirchhof A, Mishra B, Max M, Doehring A, et al. Reliable screening for a pain-protective haplotype in the GTP cyclohydrolase 1 gene (GCH1) through the use of 3 or fewer single nucleotide polymorphisms. Clin Chem. 2007;53:1010-5 pubmed
    A haplotype in the GTP cyclohydrolase 1 (dopa-responsive dystonia) gene (GCH1) is associated with decreased persistent pain. The aim of the present study was to develop a screening method for the pain-protective haplotype...
  30. Thony B, Blau N. Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. Hum Mutat. 1997;10:11-20 pubmed
    ..highly heterogeneous disorders, with more than 30 molecular lesions identified in the past 2 years in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes...
  31. Hagenah J, Saunders Pullman R, Hedrich K, Kabakci K, Habermann K, Wiegers K, et al. High mutation rate in dopa-responsive dystonia: detection with comprehensive GCHI screening. Neurology. 2005;64:908-11 pubmed
    Mutations in GTP cyclohydrolase I (GCHI) are found in 50 to 60% of cases with dopa-responsive dystonia (DRD). Heterozygous GCHI exon deletions, undetectable by sequencing, have recently been described in three DRD families...
  32. Dabo F, Grönbladh A, Nyberg F, Sundström Poromaa I, Akerud H. Different SNP combinations in the GCH1 gene and use of labor analgesia. Mol Pain. 2010;6:41 pubmed publisher
    ..if there is an association between different SNP combinations in the guanosine triphosphate cyclohydrolase (GCH1) gene and a number of pain behavior related outcomes during labor...
  33. Kishi T, Ichinose H, Yoshimura R, Fukuo Y, Kitajima T, Inada T, et al. GTP cyclohydrolase 1 gene haplotypes as predictors of SSRI response in Japanese patients with major depressive disorder. J Affect Disord. 2012;142:315-22 pubmed publisher
    ..Thus, we considered the GTP cyclohydrolase gene (GCH1) to be a good candidate gene in the pathophysiology of MDs and of the serotonin selective reuptake inhibitors (..
  34. Lamarra J, Rivero S, Pinotti A. Design of chitosan-based nanoparticles functionalized with gallic acid. Mater Sci Eng C Mater Biol Appl. 2016;67:717-726 pubmed publisher
    ..76% (w/w), CH:TPP ratio of 5 and 37mgGA/gCH leading to ZP of +50mV and 82% of PEE...
  35. George S, Wu S, Wallace M, Moser M, Wright T, Farmer K, et al. Biopsychosocial Influence on Shoulder Pain: Influence of Genetic and Psychological Combinations on Twelve-Month Postoperative Pain and Disability Outcomes. Arthritis Care Res (Hoboken). 2016;68:1671-1680 pubmed publisher
    ..DNA was genotyped for a priori selected genes involved with pain modulation (ADRB2, OPRM1, AVPR1A, GCH1, and KCNS1) and inflammation (IL1B, TNF/LTA, and IL6)...
  36. Xue J, Yu C, Sheng W, Zhu W, Luo J, Zhang Q, et al. The Nrf2/GCH1/BH4 Axis Ameliorates Radiation-Induced Skin Injury by Modulating the ROS Cascade. J Invest Dermatol. 2017;137:2059-2068 pubmed publisher
    ..Overexpression of GTP cyclohydrolase I (GCH1), the rate-limiting enzyme for BH4 synthesis, restored cellular BH4 levels and nitric oxide ..
  37. Gao Y, Wang W, Cao J, Wang F, Geng Y, Cao J, et al. Upregulation of AUF1 is involved in the proliferation of esophageal squamous cell carcinoma through GCH1. Int J Oncol. 2016;49:2001-2010 pubmed publisher
    ..b>GTP cyclohydrolase I (GCH1), the rate limiting enzyme for BH4 synthesis, was found to be downregulated...
  38. Imazumi K, Sasaki T, Takahashi K, Takai Y. Identification of a rabphilin-3A-interacting protein as GTP cyclohydrolase I in PC12 cells. Biochem Biophys Res Commun. 1994;205:1409-16 pubmed
    ..The amino acid sequence analysis of this 30 KDa protein revealed that it is GTP cyclohydrolase I.
  39. Rose S, Yu X, Heinzer A, Harrast P, Fan X, Raike R, et al. A new knock-in mouse model of l-DOPA-responsive dystonia. Brain. 2015;138:2987-3002 pubmed publisher
    ..For instance, mutations in genes critical for the synthesis of dopamine, including GCH1 and TH cause l-DOPA-responsive dystonia...
  40. Zschiebsch K, Fischer C, Pickert G, Häussler A, Radeke H, Grösch S, et al. Tetrahydrobiopterin Attenuates DSS-evoked Colitis in Mice by Rebalancing Redox and Lipid Signalling. J Crohns Colitis. 2016;10:965-78 pubmed publisher
    Guanosine triphosphate cyclohydrolase [GCH1] governs the production of the enzyme cofactor tetrahydrobiopterin [BH4] which is essential for biogenic amine synthesis, lipid metabolism via alkylglycerol monooxygenase [AGMO], and redox ..
  41. Cai S, Alp N, McDonald D, Smith I, Kay J, Canevari L, et al. GTP cyclohydrolase I gene transfer augments intracellular tetrahydrobiopterin in human endothelial cells: effects on nitric oxide synthase activity, protein levels and dimerisation. Cardiovasc Res. 2002;55:838-49 pubmed
    ..BH4 levels are regulated by de novo biosynthesis; the rate-limiting enzyme is GTP cyclohydrolase I (GTPCH)...
  42. Ichinose H, Ohye T, Segawa M, Nomura Y, Endo K, Tanaka H, et al. GTP cyclohydrolase I gene in hereditary progressive dystonia with marked diurnal fluctuation. Neurosci Lett. 1995;196:5-8 pubmed
    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)...
  43. Eshragh J, Dhruva A, Paul S, Cooper B, Mastick J, Hamolsky D, et al. Associations Between Neurotransmitter Genes and Fatigue and Energy Levels in Women After Breast Cancer Surgery. J Pain Symptom Manage. 2017;53:67-84.e7 pubmed publisher
    ..e., ADRB2 rs1042718, BDNF rs6265, COMT rs9332377, CYP3A4 rs4646437, GALR1 rs949060, GCH1 rs3783642, NOS1 rs9658498, NOS1 rs2293052, NPY1R Haplotype A04, SLC6A2 rs17841327, and 5HTTLPR + rs25531 in ..
  44. Rodan L, Gibson K, Pearl P. Clinical Use of CSF Neurotransmitters. Pediatr Neurol. 2015;53:277-86 pubmed publisher
  45. Yasuda Y, Hashimoto R, Ohi K, Yamamori H, Fujimoto M, Umeda Yano S, et al. A functional polymorphism of the GTP cyclohydrolase 1 gene predicts attention performance. Neurosci Lett. 2014;566:46-9 pubmed publisher
    Guanosine triphosphate cyclohydrolase 1 (GCH1) is the rate-limiting enzyme for the biosynthesis of tetrahydrobiopterin, a cofactor for aromatic amino acid hydroxylases and nitric oxide synthases...
  46. Guo Y, He Y, Cui C, Ouzhu L, Baima K, Duoji Z, et al. GCH1 plays a role in the high-altitude adaptation of Tibetans. Zool Res. 2017;38:155-162 pubmed publisher
    ..Here we report on a hypoxia gene ( GCH1, GTP-cyclohydrolase I), involved in maintaining nitric oxide synthetase (NOS) function and normal blood ..
  47. Jones L, Goode L, Davila E, Brown A, McCarthy D, Sharma N, et al. Translational effects and coding potential of an upstream open reading frame associated with DOPA Responsive Dystonia. Biochim Biophys Acta Mol Basis Dis. 2017;1863:1171-1182 pubmed publisher
    ..Here, we investigate functionality of a uATG/uORF introduced by a +142C>T SNP within the GCH1 gene and associated with a familial form of DOPA Responsive Dystonia...
  48. Zheng X, Ma S, Guo M, Qiu Y, Yang L. Compound Heterozygous Mutations in the DUOX2/DUOXA2 Genes Cause Congenital Hypothyroidism. Yonsei Med J. 2017;58:888-890 pubmed publisher
    ..This study reports the pedigree with goitrous congenital hypothyroidism (GCH) due to the coexistence of heterozygous mutations in the DUOX2 and DUOXA2 genes...
  49. Ohta E, Toyoshima I, Funayama M, Ichinose H, Hasegawa K, Obata F. A new mutation (Thr106Ile) of the GTP cyclohydrolase 1 gene associated with DYT5 dystonia (Segawa disease). Mov Disord. 2005;20:1083-4 pubmed
  50. Chavan B, Gillbro J, Rokos H, Schallreuter K. GTP cyclohydrolase feedback regulatory protein controls cofactor 6-tetrahydrobiopterin synthesis in the cytosol and in the nucleus of epidermal keratinocytes and melanocytes. J Invest Dermatol. 2006;126:2481-9 pubmed
    ..Moreover, GFRP expression and GTPCHI activities have been found in the nucleus of both cell types. The significance of this result warrants further investigation. ..
  51. Mbanaso F, Nnadi E, Coupe S, Charlesworth S. Stormwater harvesting from landscaped areas: effect of herbicide application on water quality and usage. Environ Sci Pollut Res Int. 2016;23:15970-82 pubmed publisher
    ..system (PPS) structures for reuse purposes was investigated in conditions where glyphosate-containing herbicides (GCH) are applied as part of PPS maintenance procedure...
  52. Darweesh S, Verlinden V, Adams H, Uitterlinden A, Hofman A, Stricker B, et al. Genetic risk of Parkinson's disease in the general population. Parkinsonism Relat Disord. 2016;29:54-9 pubmed publisher
    ..However, we were probably underpowered to detect a small improvement in PD prediction. ..
  53. Sadahiro R, Suzuki A, Matsumoto Y, Shibuya N, Enokido M, Kamata M, et al. Functional polymorphism of the GTP cyclohydrolase 1 gene affects the personality trait of novelty seeking in healthy subjects. Neurosci Lett. 2011;503:220-3 pubmed publisher
    b>GTP cyclohydrolase 1 (GCH1) is the initial and rate-limiting enzyme in the biosynthesis of tetrahydrobiopterin, which is an essential cofactor for biosynthetic enzymes of dopamine, serotonin, and nitric oxide...
  54. Steenhoff A, Crouse H, Lukolyo H, Larson C, Howard C, Mazhani L, et al. Partnerships for Global Child Health. Pediatrics. 2017;140: pubmed publisher
    Child mortality remains a global health challenge and has resulted in demand for expanding the global child health (GCH) workforce over the last 3 decades...
  55. Wadley A, Lombard Z, Cherry C, Price P, Kamerman P. Analysis of a previously identified "pain-protective" haplotype and individual polymorphisms in the GCH1 gene in Africans with HIV-associated sensory neuropathy: a genetic association study. J Acquir Immune Defic Syndr. 2012;60:20-3 pubmed publisher
    We analyzed GTP cyclohydrolase 1 in symptomatic HIV-associated sensory neuropathy in Southern Africans including a "pain-protective" 3-SNP haplotype and 6 SNPs, analyzed individually and in a 6-SNP haplotype...
  56. Kawarai T, Miyamoto R, Murakami N, Miyazaki Y, Koizumi H, Sako W, et al. [Dystonia genes and elucidation of their roles in dystonia pathogenesis]. Rinsho Shinkeigaku. 2013;53:419-29 pubmed
    ..It has been reported that effects of deep brain stimulation can vary significantly depending on genotype. Accumulation of genotype-outcome correlations would contribute to treatment decisions for dystonia patients. ..
  57. Lauderdale J, Wilensky J, Oliver E, Walton D, Glaser T. 3' deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci U S A. 2000;97:13755-9 pubmed
    ..Our findings suggest that remote 3' regulatory elements are required for initiation of PAX6 expression...
  58. Ali Z, Bursill C, Douglas G, McNeill E, Papaspyridonos M, Tatham A, et al. CCR2-mediated antiinflammatory effects of endothelial tetrahydrobiopterin inhibit vascular injury-induced accelerated atherosclerosis. Circulation. 2008;118:S71-7 pubmed publisher
    ..Endothelium-targeted overexpression of GTP cyclohydrolase 1 (GCH), the rate limiting enzyme in BH4 synthesis, increased levels of tetrahydrobiopterin (BH4), reduced ..
  59. Jung Klawitter S, Ebersold J, Göhring G, Blau N, Opladen T. Generation of an iPSC line from a patient with GTP cyclohydrolase 1 (GCH1) deficiency: HDMC0061i-GCH1. Stem Cell Res. 2017;20:38-41 pubmed publisher
    Fibroblasts from a female patient carrying a heterozygous variation in GTP cyclohydrolase 1 (GCH1; OMIM: 600225; HGNC: 4193; c.235_240del/p...
  60. Mnika K, Pule G, Dandara C, Wonkam A. An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine. OMICS. 2016;20:565-574 pubmed
    ..g., variants in OPRM1, HMOX-1, GCH1, VEGFA COMT genes), and pharmacogenomics of antalgics and opioids (e.g...
  61. Schneider S, Alcalay R. Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature. Mov Disord. 2017;32:1504-1523 pubmed publisher
    ..4 heterozygotes), DJ-1 (n?=?1), LRRK2 (n?=?55), GBA (n?=?10 Gaucher disease patients with parkinsonism), DNAJC13, GCH1, ATP13A2, PLA2G6 (n?=?8 patients, 2 with PD), MPAN (n?=?2), FBXO7, RAB39B, and ATXN2 (SCA2), as well as on 22q ..
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