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GCH1 encodes a member of the GTP cyclohydrolase family. Additionally we are shipping GTP Cyclohydrolase 1 Antibodies (78) and GTP Cyclohydrolase 1 Proteins (12) and many more products for this protein.
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Exonic deletion in the GCH1 gene only accounted for the etiology in a small percentage of patients with sporadic dopa-responsive dystonia in our Han Chinese cohort.
identified a novel missense variant, c.5A > G, p.(Glu2Gly), within the GCH1 gene in affected family members displaying a range of phenotypes; variant is pathogenic in studied family and may underlie Parkinson's disease and Dopa-responsive dystonia
No association was seen between the pain protective GCH-1 haplotype and the development of hypersensitivity following injury. An increase in baseline pain thresholds was seen between visits in protective haplotype carriers who sensitized to injury.
Postherniotomy pain and related activity impairment was associated with functional variations in GCH1 (and COMT (show COMT ELISA Kits)).
This is the first study to report changes in the expression of GTP Cyclohydrolase I of this gene in schizophrenia.
Five polymorphisms forming two haplotype blocks within the GTP cyclohydrolase 1 gene are associated with endothelial dysfunction and oxidative stress.
DYT5 is caused by heterozygous mutations of the GCH1 gene, located on 14q22.1-q22.2[review]
This study supports to the conclusions that susceptibility to idiopathic dystonia is not greatly affected by common genetic variants of GCH1 polynorphisms.
alterations in GCH1 activity affect attentional function, especially sustained attention and vigilance.
Rare GCH1 variants are associated with an increased risk for Parkinson's disease.
gene expression analysis after iNOS (show NOS2 ELISA Kits) induction identified 78 genes that were altered between wild-type and Gch1(fl/fl (show FLT3LG ELISA Kits))Tie2cre macrophages
Data indicate that global deficiency in GTP cyclohydrolase I (Gch1) is embryonically lethal between E11.5 and E13.5.
There is a cell-autonomous role of endothelial GTP cyclohydrolase 1 and tetrahydrobiopterin in blood pressure regulation.
Inhibition of GCH1 prevented the Escherichia coli K1 induced expression of CD64 (show FCGR1A ELISA Kits) in macrophages in vitro and the development of bacteremia in a newborn mouse model of meningitis.
The GTPCH I/Tetreahydrobiopterin pathway is critical to preserve endothelial progenitor cells quantity, function, and regenerative capacity during wound healing in type 1 diabetic mice.
maintenance of endothelial GTPCH I expression and the resulting improvement in BH4 biosynthesis ameliorate diabetic nephropathy
The involvement of the GCH1 gene in pain models using the hyperphenylalaninemia 1 (hph-1 (show EGLN2 ELISA Kits)) mouse, is reported.
GTPCH1 non-covalently interacts with polyubiquitin via an ubiquitin-binding domain.
The data suggest that GCH1 inhibition reduces tumor growth by (i) direct killing of tumor cells, (ii) by inhibiting angiogenesis, and (iii) by enhancing the antitumoral immune response
Data indicate that myocardial nitric oxide synthase 1 (NOS1 (show NOS ELISA Kits)) activity was increased in GCH1 transgenic mice (mGCH1-Tg).
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.
GTP cyclohydrolase 1 (dopa-responsive dystonia)
, GTP cyclohydrolase 1
, GTP cyclohydrolase I
, dystonia 14
, guanosine 5'-triphosphate cyclohydrolase I
, GTP cyclohydrolase I (form A; N-terminus)