[cite web | title = Entrez Gene: PTS 6-pyruvoyltetrahydropterin synthase| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5805| accessdate = ] ] PBB_Summary
section_title =
summary_text =
ee also
* 6-pyruvoyltetrahydropterin synthase
* 6-Pyruvoyltetrahydropterin synthase deficiency
References
Further reading
PBB_Further_reading
citations =
*cite journal | author=Werner ER, Werner-Felmayer G, Fuchs D, "et al." |title=Biochemistry and function of pteridine synthesis in human and murine macrophages. |journal=Pathobiology |volume=59 |issue= 4 |pages= 276–9 |year= 1991 |pmid= 1883524 |doi=
*cite journal | author=Thöny B, Blau N |title=Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes. |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 11–20 |year= 1997 |pmid= 9222755 |doi= 10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P |doilabel=10.1002/(SICI)1098-1004(1997)10:111::AID-HUMU23.0.CO;2-P
*cite journal | author=Thöny B, Auerbach G, Blau N |title=Tetrahydrobiopterin biosynthesis, regeneration and functions. |journal=Biochem. J. |volume=347 Pt 1 |issue= |pages= 1–16 |year= 2000 |pmid= 10727395 |doi=
*cite journal | author=Thöny B, Leimbacher W, Bürgisser D, Heizmann CW |title=Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme. |journal=Biochem. Biophys. Res. Commun. |volume=189 |issue= 3 |pages= 1437–43 |year= 1993 |pmid= 1282802 |doi=
*cite journal | author=Scriver CR, Clow CL, Kaplan P, Niederwieser A |title=Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes. |journal=Hum. Genet. |volume=77 |issue= 2 |pages= 168–71 |year= 1987 |pmid= 3308682 |doi=
*cite journal | author=Oppliger T, Thöny B, Nar H, "et al." |title=Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity. |journal=J. Biol. Chem. |volume=270 |issue= 49 |pages= 29498–506 |year= 1996 |pmid= 7493990 |doi=
*cite journal | author=Ashida A, Owada M, Hatakeyama K |title=A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia. |journal=Genomics |volume=24 |issue= 2 |pages= 408–10 |year= 1995 |pmid= 7698774 |doi= 10.1006/geno.1994.1642
*cite journal | author=Thöny B, Leimbacher W, Blau N, "et al." |title=Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase. |journal=Am. J. Hum. Genet. |volume=54 |issue= 5 |pages= 782–92 |year= 1994 |pmid= 8178819 |doi=
*cite journal | author=Thöny B, Heizmann CW, Mattei MG |title=Chromosomal location of two human genes encoding tetrahydrobiopterin-metabolizing enzymes: 6-pyruvoyl-tetrahydropterin synthase maps to 11q22.3-q23.3, and pterin-4 alpha-carbinolamine dehydratase maps to 10q22. |journal=Genomics |volume=19 |issue= 2 |pages= 365–8 |year= 1994 |pmid= 8188266 |doi= 10.1006/geno.1994.1071
*cite journal | author=Ashida A, Hatakeyama K, Kagamiyama H |title=cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase. |journal=Biochem. Biophys. Res. Commun. |volume=195 |issue= 3 |pages= 1386–93 |year= 1993 |pmid= 8216273 |doi= 10.1006/bbrc.1993.2197
*cite journal | author=Liu TT, Hsiao KJ |title=Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency. |journal=Hum. Genet. |volume=98 |issue= 3 |pages= 313–6 |year= 1996 |pmid= 8707300 |doi=
*cite journal | author=Kluge C, Brecevic L, Heizmann CW, "et al." |title=Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase. |journal=Eur. J. Biochem. |volume=240 |issue= 2 |pages= 477–84 |year= 1996 |pmid= 8841415 |doi=
*cite journal | author=Hanihara T, Inoue K, Kawanishi C, "et al." |title=6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study. |journal=Mov. Disord. |volume=12 |issue= 3 |pages= 408–11 |year= 1997 |pmid= 9159737 |doi= 10.1002/mds.870120321
*cite journal | author=Oppliger T, Thöny B, Kluge C, "et al." |title=Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families. |journal=Hum. Mutat. |volume=10 |issue= 1 |pages= 25–35 |year= 1997 |pmid= 9222757 |doi= 10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L |doilabel=10.1002/(SICI)1098-1004(1997)10:125::AID-HUMU43.0.CO;2-L
*cite journal | author=Liu TT, Hsiao KJ, Lu SF, "et al." |title=Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency. |journal=Hum. Mutat. |volume=11 |issue= 1 |pages= 76–83 |year= 1998 |pmid= 9450907 |doi= 10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W |doilabel=10.1002/(SICI)1098-1004(1998)11:176::AID-HUMU123.0.CO;2-W
*cite journal | author=Scherer-Oppliger T, Matasovic A, Laufs S, "et al." |title=Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia. |journal=Hum. Mutat. |volume=13 |issue= 4 |pages= 286–9 |year= 1999 |pmid= 10220141 |doi= 10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C |doilabel=10.1002/(SICI)1098-1004(1999)13:4286::AID-HUMU43.0.CO;2-C
*cite journal | author=Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B |title=Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II. |journal=J. Biol. Chem. |volume=274 |issue= 44 |pages= 31341–8 |year= 1999 |pmid= 10531334 |doi=
*cite journal | author=Kim ST, Lim DS, Canman CE, Kastan MB |title=Substrate specificities and identification of putative substrates of ATM kinase family members. |journal=J. Biol. Chem. |volume=274 |issue= 53 |pages= 37538–43 |year= 2000 |pmid= 10608806 |doi=
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