GTP Cyclohydrolase 1 (GCH1) ELISA Kits

Human GTP Cyclohydrolase 1 (GCH1) interaction partners

1. The results of this study showed that no effect on pain perception was observed for this combined GTP-cyclohydrolase-1 haplotype.

2. Dopa-responsive dystonia proband was found to be a compound heterozygote for GCH1 variants. Pedigree analysis demonstrates reduced penetrance of GCH1 mutations.

3. In a Chinese population, GCH1 rare variants were associated with a risk factor for Parkinson's disease.

4. Her 2 uncles and probably her 2 grandaunts also have limbs tremor. Genetic analysis by using PCR-direct sequencing revealed a novel point mutation (c.263G>T: p. Arg88Leu) in GCH1

5. The study indicates potential contribution of GCH1 polymorphisms to the variability of pain in African Americans with sickle cell disease.

6. the pivotal role of GCH1 overexpression in post-infarction cardiac remodeling is attributable to preservation of neuronal nitric oxide synthase and sarcoplasmic reticulum Ca(2+) handling proteins, and identify a new therapeutic target for cardiac remodeling after infarction.

7. 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.

8. It is a genetic risk for Parkinson's disease.

9. 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) have been found and predicted to be damaging or deleterious.

10. 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

11. 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.

12. 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.

13. This study indicates that mutations in GCH1 are rare in late-onset Parkinson disease.

14. 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.

15. GCH1 variants affect early PD risk through altered dopamine uptake, and aging alters how genetic factors contribute to disease development.

16. c.550C>T mutation is associated with dopa-responsive dystonia.

17. This study demonstrated that whole-exome sequencing show reveled GCH1 mutation with early-onset generalized dystonia.

18. Deletion of GCH1 likely contributes to dopa-responsive dystonia.

19. High GCH1 expression is associated with esophageal squamous cell carcinoma.

20. Dopa-responsive dystonia phenotype may have heterogeneous genetic background and may be caused by point mutations or rearrangements in the GCH1 gene as well as in the PARK2 gene.

Mouse (Murine) GTP Cyclohydrolase 1 (GCH1) interaction partners

1. GCH1-induced cardioprotection against DCM mainly involves the tetrahydrobiopterin/nNOS/sarcoplasmic reticulum Ca2+ handling proteins signaling pathway and depression of p38 Mitogen-Activated Protein Kinases in Diabetes Mellitus, Type 1.

2. Cardiomyocyte-specific overexpression of GTP cyclohydrolase I (mGCH) increases BH4 several-fold in the heart.

3. gene expression analysis after iNOS induction identified 78 genes that were altered between wild-type and Gch1(fl/fl)Tie2cre macrophages

4. Data indicate that global deficiency in GTP cyclohydrolase I (Gch1) is embryonically lethal between E11.5 and E13.5.

5. There is a cell-autonomous role of endothelial GTP cyclohydrolase 1 and tetrahydrobiopterin in blood pressure regulation.

6. Inhibition of GCH1 prevented the Escherichia coli K1 induced expression of CD64 in macrophages in vitro and the development of bacteremia in a newborn mouse model of meningitis.

7. 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.

8. maintenance of endothelial GTPCH I expression and the resulting improvement in BH4 biosynthesis ameliorate diabetic nephropathy

9. The involvement of the GCH1 gene in pain models using the hyperphenylalaninemia 1 (hph-1) mouse, is reported.

10. GTPCH1 non-covalently interacts with polyubiquitin via an ubiquitin-binding domain.

11. 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

12. Data indicate that myocardial nitric oxide synthase 1 (NOS1) activity was increased in GCH1 transgenic mice (mGCH1-Tg).

13. GCH1 expression and BH4 are novel determinants of cardiac autonomic regulation that may have important roles in cardiovascular pathophysiology.

14. The hph-1 mutant mouse has deficient GTP cyclohydrolase I (GTPCH1) activity, resulting in low BH4 tissue content.

15. Anatomical origin determines the ability of vessel wall to cope with oxidative stress induced by uncoupling of eNOS in GTP-cyclohydrolase I-deficient hph-1 mice.

16. guanosine triphosphate cyclohydrolase-1 expression and tetrahydrobiopterin have roles in T cell activation

17. The GTP cyclohydrolase I/tetrahydrobiopterin pathway critically regulates endothelial stem cell number and function in DOCA-salt hypertensive mice, at least in part, via suppressing thrombospondin-1 expression and oxidative stress.

18. Studies provide a new mechanism for regulation of endothelial GTPCH-1 by its phosphorylation and interplay with GFRP.

19. GTP cyclohydrolase I plays a crucial role in regulating norepinephrine biosynthesis by a pathway the activity of which is triggered by lipopolysaccharide i.p. administration.

20. mice deficient in GTP-CH1/BH4 display a pulmonary hypertensive but not systemic hypertensive phenotype