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The enzyme encoded by PTS catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP.
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biopterin contents in the brains of these knock-out mice were moderately decreased from postnatal day 0 (P0) and remained constant up to P21
ptps has a role in 6-pyruvoyltetrahydropterin synthase- or BH4-biosynthetic activity with IGF-1 (show IGF1 Proteins)
Severe neurological impairment from BH4 deficiency could be prevented by newborn screening for hyperphenylalaninemia (HPA (show HPSE Proteins)) and proper metabolic management.
A total of 43 mutations were identified in the PTS gene in a screen of East Asian populations, comprising 22 previously reported mutations and 21 new discovered mutations.
The mutant characterization of PTPS gene was coincident with other early studies in Chinese. The novel mutation L127F was considered as a pathogenetic mutation and associated with severe clinical phenotype.
Our data show that PTPS induction is necessary for optimized BH4 synthesis in cytokine-stimulated human coronary artery endothelial cells and point to IL-1beta (show IL1B Proteins) as a leading cytokine in this process.
Human PTS was efficiently expressed in noradrenergic regions but only in a small number of dopaminergic neurons.
Expression of PTS was significantly decreased in PD cases.
We suggest that the serum prolactin (show PRL Proteins) level may be a more sensitive marker than the CSF (show CSF2 Proteins) HVA level to guide the dose adjustment of L-Dopa/carbidopa in the management of patients with PTPS deficiency.
The enzyme encoded by this gene catalyzes the elimination of inorganic triphosphate from dihydroneopterin triphosphate, which is the second and irreversible step in the biosynthesis of tetrahydrobiopterin from GTP. Tetrahydrobiopterin, also known as BH(4), is an essential cofactor and regulator of various enzyme activities, including enzymes involved in serotonin biosynthesis and NO synthase activity. Mutations in this gene result in hyperphenylalaninemia.
, 6-pyruvoyl tetrahydrobiopterin synthase
, putative 6-pyruvoyltetrahydropterin synthase
, PTP synthase