EC Number   |
Application |
Reference |
|---|
    3.5.4.16 | biotechnology |
construction of transgenic tomato plants expressing GCHI for engineering of the peteridine branch of folate synthesis in Lycopersicon esculentum by folate biofortification, overview |
670660 |
| 3.5.4.16 | biotechnology |
creation of a phenylalanine sink by transgenic overexpression of phenylalnine hydroxylase and GTP cyclohydrolase I in the skin to reduce high phenylalanine concentrations in the blood in phenylketonuria metabolic disease |
668507 |
| 3.5.4.16 | medicine |
cardiomyocyte GTP cyclohydrolase 1 is a therapeutic target for cardiac remodeling and dysfunction after myocardial infarction |
758404 |
| 3.5.4.16 | medicine |
endothelium-specific GTPCH I overexpression retards the progression of hypertension through preservation of the structure and function of resistance mesenteric arteries, endothelium-specific GTPCH I overexpression abrogates superoxide anion production and preserves endothelial nitric oxide synthase phosphorylation, which results in preserved structural and functional integrity of resistance mesenteric arteries and lowered blood pressure in low-renin hypertension |
697359 |
| 3.5.4.16 | medicine |
mutations in GCH are associated with dopa-responsive dystonia and hyperphenylalaninemia |
696398 |
| 3.5.4.16 | medicine |
the mutation in the intron 5 splicing site of the GCH1 gene, IVS5+3insT, causes Dopa-responsive dystonia (also known as Segawa syndrome or hereditary progressive dystonia with diurnal fluctuation) |
698116 |
| 3.5.4.16 | molecular biology |
mutations in Punch can act as genetic enhancers of Dube3a over-expression phenotypes |
720551 |
| 3.5.4.16 | molecular biology |
mutations in Punch can act as genetic enhancers of Dube3a overexpression phenotypes |
720551 |
| 3.5.4.16 | nutrition |
construction of transgenic tomato plants expressing GCHI for engineering of the peteridine branch of folate synthesis in Lycopersicon esculentum by folate biofortification, overview |
670660 |
