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GTP cyclohydrolase 1

GTP cyclohydrolase I, GCH1, GCH, GTP cyclohydrolase 1
This gene encodes a member of the GTP cyclohydrolase family. The encoded protein is the first and rate-limiting enzyme in tetrahydrobiopterin (BH4) biosynthesis, catalyzing the conversion of GTP into 7,8-dihydroneopterin triphosphate. BH4 is an essential cofactor required by aromatic amino acid hydroxylases as well as nitric oxide synthases. Mutations in this gene are associated with malignant hyperphenylalaninemia and dopa-responsive dystonia. Several alternatively spliced transcript variants encoding different isoforms have been described; however, not all variants give rise to a functional enzyme. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: CAN, ACID, HAD, iNOS, V1a
Papers on GTP cyclohydrolase I
Analysis of the genetic variability in Parkinson's disease from Southern Spain.
Pittman et al., Granada, Spain. In Neurobiol Aging, Jan 2016
Genetic analysis was performed through a next-generation sequencing panel to screen 8 PD-related genes (LRRK2, SNCA, PARKIN, PINK1, DJ-1, VPS35, GBA, and GCH1) in EOPD and FPD groups and direct Sanger sequencing of GBA exons 8-11 and LRRK2 exons 31 and 41 in the LOPD group.
Association of four new candidate genetic variants with Parkinson's disease in a Han Chinese population.
Peng et al., China. In Am J Med Genet B Neuropsychiatr Genet, Jan 2016
UNASSIGNED: Large-scale meta-analysis of genome-wide association data has identified six new risk loci (SIPA1L2, INPP5F, MIR4697, GCH1, VPS13C, and DDRGK1) for Parkinson's disease (PD).
2-Acetyl-7-hydroxy-6-methoxy-1-methyl-1,2,3,4,-tetrahydroisoquinoline exhibits anti-inflammatory properties and protects the nigral dopaminergic neurons.
Hwang et al., Seoul, South Korea. In Eur J Pharmacol, Jan 2016
In lipopolysaccharide-activated BV-2 microglial cells, AMTIQ lowered nitric oxide and tetrahydrobiopterin levels and downregulated gene expression of inducible nitric oxide synthase and GTP cyclohydrolase I. AMTIQ also repressed gene expression of the proinflammatory cytokines IL-1β and TNF-α, and attenuated nuclear translocation of NF-κB.
Analysis of stereochemistry and biosynthesis of epicatechin in tea plants by chiral phase high performance liquid chromatography.
Xia et al., Hefei, China. In J Chromatogr B Analyt Technol Biomed Life Sci, Jan 2016
Finally, (-)-EC could result from the de-gallate acid reaction of epicatechin gallate (ECG) catalyzed by a novel partially purified native galloylated catechins hydrolase (GCH) from tea leaves.
Dexamethasone, tetrahydrobiopterin and uncoupling of endothelial nitric oxide synthase.
Li et al., Mainz, Germany. In J Geriatr Cardiol, Sep 2015
Treatment of human EA.hy 926 endothelial cells with dexamethasone decreased mRNA and protein expression of both BH4-synthesizing enzymes: GTP cyclohydrolase I and dihydrofolate reductase.
Dopa-responsive dystonia--clinical and genetic heterogeneity.
Jankovic et al., Houston, United States. In Nat Rev Neurol, Jul 2015
Autosomal dominant GTP cyclohydrolase 1 deficiency, also known as Segawa disease, is the most common and best-characterized condition that manifests as DRD, but a similar presentation can be seen with genetic abnormalities that lead to deficiencies in tyrosine hydroxylase, sepiapterin reductase or other enzymes that are involved in the biosynthesis of dopamine.
Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.
Bhatia et al., London, United Kingdom. In Eur J Neurol, Apr 2015
Clinical and genetic heterogeneity also characterizes myoclonus-dystonia, which includes not only the classical phenotype associated with epsilon-sarcoglycan mutations but rarely also presentation of ANO3 gene mutations, TITF1 gene mutations typically underlying benign hereditary chorea, and some dopamine synthesis pathway conditions due to GCH1 and TH mutations.
A review of the role of genetic testing in pain medicine.
Faynboym et al., Indianapolis, United States. In Pain Physician, 2014
METHODS: This article discusses the specific pain implications of genetic variations in CYP1A2, CYP2C8, CYP2C9, CYP2C19, CYP2D6, CYP2E1, CYP3A4, CYP3A7, OPRM1, OPRK1, OPRD1, COMT, GABA, UGT, MC1R, GCH1, ABCB1, P-glycoprotein, 5HTR1A, 5HTR2A, MTHFR, CACNA2D2, and 5-HTTLPR.
Genetics and pathophysiology of primary dystonia with special emphasis on DYT1 and DYT5.
Nomura et al., Tokyo, Japan. In Semin Neurol, 2014
DYT5 is caused by heterozygous mutations of the GCH1 gene, located on 14q22.1-q22.2.
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.
Kamerman et al., Johannesburg, South Africa. In J Acquir Immune Defic Syndr, 2012
Subsequently, the role of GTP cyclohydrolase 1 in painful HIV-associated sensory neuropathy remains possible.
Common polymorphisms in dystonia-linked genes and susceptibility to the sporadic primary dystonias.
Mellick et al., Brisbane, Australia. In Parkinsonism Relat Disord, 2012
This study found that Modest genotypic associations (P<0.05) were observed for three GCH1 SNPs (rs12147422, rs3759664 and rs10483639) when comparing all cases against controls.
Regulation of β-adrenergic control of heart rate by GTP-cyclohydrolase 1 (GCH1) and tetrahydrobiopterin.
Channon et al., Oxford, United Kingdom. In Cardiovasc Res, 2012
GCH1 expression and BH4 are novel determinants of cardiac autonomic regulation that may have important roles in cardiovascular pathophysiology.
Guanine triphosphate-cyclohydrolase 1-deficient dopa-responsive dystonia presenting as frequent falling in 2 children.
Tsao, Columbus, United States. In J Child Neurol, 2012
this study reported that 2 children with dopa-responsive dystonia with GTP-cyclohydrolase 1 mutations.
Pulmonary hypertension in the newborn GTP cyclohydrolase I-deficient mouse.
Vasquez-Vivar et al., Toronto, Canada. In Free Radic Biol Med, 2012
The hph-1 mutant mouse has deficient GTP cyclohydrolase I (GTPCH1) activity, resulting in low BH4 tissue content.
The current status of gene therapy for Parkinson's disease.
Muramatsu, Tochigi, Japan. In Ann Neurosci, 2010
The delivery of triple genes including tyrosine hydroxylase (TH), guanosine triphosphate cyclohydrolase I (GCH) and AADC is also being undertaken, and is aimed at continuously supplying dopamine into the putamen.
GTP cyclohydrolase and tetrahydrobiopterin regulate pain sensitivity and persistence.
Woolf et al., United States. In Nat Med, 2006
We report that GTP cyclohydrolase (GCH1), the rate-limiting enzyme for tetrahydrobiopterin (BH4) synthesis, is a key modulator of peripheral neuropathic and inflammatory pain.
Respiratory tract mucin genes and mucin glycoproteins in health and disease.
Voynow et al., Washington, D.C., United States. In Physiol Rev, 2006
Specific inflammatory/immune response mediators can activate mucin gene regulation and airway remodeling, including goblet cell hyperplasia (GCH).
Mutations in the gene encoding epsilon-sarcoglycan cause myoclonus-dystonia syndrome.
Gasser et al., München, Germany. In Nat Genet, 2001
These are DYT1, encoding torsin A and mutant in the early-onset generalized form, GCH1 (formerly known as DYT5), encoding GTP-cyclohydrolase I and mutant in dominant dopa-responsive dystonia, and TH, encoding tyrosine hydroxylase and mutant in the recessive form of the disease.
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene.
Tsuji et al., Japan. In Nat Genet, 1994
Here we report that GTP cyclohydrolase I is mapped to 14q22.1-q22.2.
Feedback regulation mechanisms for the control of GTP cyclohydrolase I activity.
Hatakeyama et al., Ōsaka, Japan. In Science, 1993
The inhibition occurred through BH4-dependent complex formation between p35 protein and GTP cyclohydrolase I. Furthermore, the inhibition was specifically reversed by phenylalanine, and, in conjunction with p35, phenylalanine reduced the cooperativity of GTP cyclohydrolase I.
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