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GCH1 encodes a member of the GTP cyclohydrolase family. Additionally we are shipping GTP Cyclohydrolase 1 Antibodies (86) and GTP Cyclohydrolase 1 Proteins (12) and many more products for this protein.
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Study identified 15 patients with GCH1 mutations (15 patients from seven families and five sporadic cases). The patients presented two distinctive phenotypes of juvenile or young-onset dopa-responsive dystonia and Parkinson's disease, which clinically and radiologically shared characteristic features. GCH1 mutations induce the distinctive symptoms among young or middle age at onset.
One novel mutation of c.679A>G (p.T227A) in GCH1 and 3 known mutations of c.457C>T (p.R153X), c.739G>A (p.G247S), and c.698G>A (p.R227H) in tyrosine hydroxylase (TH (show TH ELISA Kits)) have been found and predicted to be damaging or deleterious.
Our data expand the genotypic spectrum of GCH1 and confirm the broad phenotypic spectrum of GTP cyclohydrolase 1-deficient DOPA-responsive dystonia in the Serbian population
Our results suggest that rs329648 is associated with risk of developing PD in the Han Chinese population. Our findings should be verified in further studies, and they highlight the need for functional studies of MIR4697.
Association analysis indicated that the Tibetan version of GCH1 was significantly associated with multiple physiological traits in Tibetans, including blood nitric oxide concentration, blood oxygen saturation, and hemoglobin concentration.
This study indicates that mutations in GCH1 are rare in late-onset Parkinson disease.
This study shown GCH1 genetic variants for Parkinson's disease are associated with the risk of incident Parkinson's disease in the general population and with impairment in daily functioning in individuals without clinical parkinsonism.
GCH1 variants affect early PD risk through altered dopamine uptake, and aging alters how genetic factors contribute to disease development.
This study demonstrated that whole-exome sequencing show reveled GCH1 mutation with early-onset generalized dystonia.
Deletion of GCH1 likely contributes to dopa-responsive dystonia.
GCH1-induced cardioprotection against DCM mainly involves the tetrahydrobiopterin/nNOS (show NOS1 ELISA Kits)/sarcoplasmic reticulum Ca2 (show CA2 ELISA Kits)+ handling proteins signaling pathway and depression of p38 (show CRK ELISA Kits) Mitogen-Activated Protein Kinases in Diabetes Mellitus, Type 1.
Cardiomyocyte-specific overexpression of GTP cyclohydrolase I (mGCH) increases BH4 several-fold in the heart.
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) mouse, is reported.
GTPCH1 non-covalently interacts with polyubiquitin via an ubiquitin-binding domain.
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 I
, dystonia 14
, guanosine 5'-triphosphate cyclohydrolase I
, GTP cyclohydrolase 1 (dopa-responsive dystonia)
, GTP cyclohydrolase 1
, GTP cyclohydrolase I (form A; N-terminus)