EC Number   |
General Information |
Reference |
|---|
    3.5.4.16 | malfunction |
decreases in GTPCH activity and expression in late stages of acute cardiac rejection due to a deficit in BH4 |
-, 718548 |
| 3.5.4.16 | malfunction |
decreases in GTPCH activity and expression in late stages of acute cardiac rejection due to a deficit in BH4. Mechanism of the decreased rejection appears related to decreased T cell proliferation and modulation of immune function by higher expression of genes involved in hematopoietic/stromal cell development and recruitment |
718548 |
| 3.5.4.16 | malfunction |
GTP cyclohydrolase I gene polymorphisms are associated with endothelial dysfunction and oxidative stress in patients with type 2 diabetes mellitus |
735125 |
| 3.5.4.16 | malfunction |
multimeric assemblies of wild-type GTPCH and truncation mutant DELTA45-GTPCH on their own display markedly different banding patterns |
719914 |
| 3.5.4.16 | malfunction |
three different heterozygous mutations in the Punch gene enhance the gmr-Dube3a rough eye phenotype causing a glazed appearance, loss of inter-ommatidial bristles and often displaying yellowish discoloration indicative of underlying neurodegeneration. In the heterozygous state these mutations in Punch show no eye phenotype when crossed to the gmr-GAL4 driver alone and the individual UAS-Dube3a stocks without gmr-GAL4 do not have rough eyes |
720551 |
| 3.5.4.16 | malfunction |
three different heterozygous mutations in the Punch gene enhance the gmr>Dube3a rough eye phenotype causing a glazed appearance, loss of inter-ommatidial bristles and often displaying yellowish discoloration indicative of underlying neurodegeneration. In the heterozygous state these mutations in Punch show no eye phenotype when crossed to the gmr-GAL4 driver alone and the individual UAS-Dube3a stocks without gmr-GAL4 do not have rough eyes |
720551 |
| 3.5.4.16 | metabolism |
cardiac GTP cyclohydrolase 1 is degraded in remodeled hearts after myocardial infarction, concomitant with increases in the thickness of interventricular septum, interstitial fibrosis, and phosphorylated p38 mitogen-activated protein kinase and decreases in left ventricular anterior wall thickness, cardiac contractility, tetrahydrobiopterin, the dimers of nitric oxide synthase, sarcoplasmic reticulum Ca2+ release, and the expression of sarcoplasmic reticulum Ca2+ handling proteins. Transgenic overexpression of GTP cyclohydrolase 1 in cardiomyocytes reduces the thickness of interventricular septum and interstitial fibrosis and increases anterior wall thickness and cardiac contractility after infarction. Overexpression of GTP cyclohydrolase 1 decreases phosphorylated p38 mitogen-activated protein kinase and elevates tetrahydrobiopterin levels, the dimerization and phosphorylation of neuronal nitric oxide synthase, sarcoplasmic reticulum Ca2+ release, and sarcoplasmic reticulum Ca2+ handling proteins in post-infarction remodeled hearts |
758404 |
| 3.5.4.16 | metabolism |
GCH-1 is the rate-limiting enzyme for tetrahydrobiopterin synthesis |
711040 |
| 3.5.4.16 | metabolism |
GCH1 is the rate-limiting enzyme in the generation of BH4 |
718553 |
| 3.5.4.16 | metabolism |
GTP cyclohydrolase I is the rate-limiting enzyme for tetrahydrobiopterin synthesis |
-, 718548 |
