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Abbreviation : PTS
Long Form : 6-Pyruvoyl-tetrahydropterin synthase
No. Year Title Co-occurring Abbreviation
2020 Clinical, biochemical and molecular spectrum of mild 6-pyruvoyl-tetrahydropterin synthase deficiency and a case report. ---
2019 Reversible S-glutathionylation of human 6-pyruvoyl tetrahydropterin synthase protects its enzymatic activity. ---
2013 Albino (al) is a tetrahydrobiopterin (BH4)-deficient mutant of the silkworm Bombyx mori. al, lem, PAH, TH
2010 Advanced research on dopamine signaling to develop drugs for the treatment of mental disorders: regulation of dopaminergic neural transmission by tyrosine hydroxylase protein at nerve terminals. DBH, DRD, GCH-I, TH
2010 Phenotypic variability, neurological outcome and genetics background of 6-pyruvoyl-tetrahydropterin synthase deficiency. CSF, PTPSd
2009 Exhaustive analysis of BH4 and dopamine biosynthesis genes in patients with Dopa-responsive dystonia. SPR, TH
2007 [Screening for tetrahydrobiopterin metabolic disorders and related gene analysis among the patients with motor disturbance and mental retardation]. DHPR, DRD, GCH1, HPA, PAH, Phe
2005 Genetically rescued tetrahydrobiopterin-depleted mice survive with hyperphenylalaninemia and region-specific monoaminergic abnormalities. TH
2001 Identification of three novel 6-pyruvoyl-tetrahydropterin synthase gene mutations (226C>T, IVS3+1G>A, 116-119delTGTT) in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. ---
10  1999 Regulation of pteridine-requiring enzymes by the cofactor tetrahydrobiopterin. DRD, GCH, GTP, HPD, NOS, PAH, SPD, TH, TPH
11  1988 Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers. HPLC
12  1987 Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes. ---