PTS (gene): Difference between revisions
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*{{cite journal | author=Oppliger T |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 |name-list-format=vanc| author2=Thöny B | author3=Kluge C | display-authors=3 | last4=Matasovic | first4=Ana | last5=Heizmann | first5=Claus W. | last6=Ponzone | first6=Alberto | last7=Spada | first7=Marco | last8=Blau | first8=Nenad }} | *{{cite journal | author=Oppliger T |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 |name-list-format=vanc| author2=Thöny B | author3=Kluge C | display-authors=3 | last4=Matasovic | first4=Ana | last5=Heizmann | first5=Claus W. | last6=Ponzone | first6=Alberto | last7=Spada | first7=Marco | last8=Blau | first8=Nenad }} | ||
*{{cite journal | author=Liu TT |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 |name-list-format=vanc| author2=Hsiao KJ | author3=Lu SF | display-authors=3 | last4=Wu | first4=Sheu-Jen | last5=Wu | first5=Kuei-Fen | last6=Chiang | first6=Szu-Hui | last7=Liu | first7=Xiao-Quing | last8=Chen | first8=Rui-Guan | last9=Yu | first9=Wei-Min }} | *{{cite journal | author=Liu TT |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 |name-list-format=vanc| author2=Hsiao KJ | author3=Lu SF | display-authors=3 | last4=Wu | first4=Sheu-Jen | last5=Wu | first5=Kuei-Fen | last6=Chiang | first6=Szu-Hui | last7=Liu | first7=Xiao-Quing | last8=Chen | first8=Rui-Guan | last9=Yu | first9=Wei-Min }} | ||
*{{cite journal | author=Scherer-Oppliger T |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 |name-list-format=vanc| author2=Matasovic A | author3=Laufs S | display-authors=3 | last4=Levy | first4=Harvey L. | last5=Quackenbush | first5=Elisabeth J. | last6=Blau | first6=Nenad | last7= | *{{cite journal | author=Scherer-Oppliger T |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 |name-list-format=vanc| author2=Matasovic A | author3=Laufs S | display-authors=3 | last4=Levy | first4=Harvey L. | last5=Quackenbush | first5=Elisabeth J. | last6=Blau | first6=Nenad | last7=Thöny | first7=Beat }} | ||
*{{cite journal |vauthors=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=10.1074/jbc.274.44.31341 }} | *{{cite journal |vauthors=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=10.1074/jbc.274.44.31341 }} | ||
*{{cite journal |vauthors=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=10.1074/jbc.274.53.37538 }} | *{{cite journal |vauthors=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=10.1074/jbc.274.53.37538 }} | ||
Latest revision as of 15:28, 14 January 2018
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6-pyruvoyltetrahydropterin synthase, also known as PTS, is a human gene which facilitates folate biosynthesis.[1]
See also
References
Further reading
- Werner ER, Werner-Felmayer G, Fuchs D, et al. (1991). "Biochemistry and function of pteridine synthesis in human and murine macrophages". Pathobiology. 59 (4): 276–9. doi:10.1159/000163662. PMID 1883524.
- Thöny B, Blau N (1997). "Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes". Hum. Mutat. 10 (1): 11–20. doi:10.1002/(SICI)1098-1004(1997)10:1<11::AID-HUMU2>3.0.CO;2-P. PMID 9222755.
- Thöny B, Auerbach G, Blau N (2000). "Tetrahydrobiopterin biosynthesis, regeneration and functions". Biochem. J. 347 (1): 1–16. doi:10.1042/0264-6021:3470001. PMC 1220924. PMID 10727395.
- Thöny B, Leimbacher W, Bürgisser D, Heizmann CW (1993). "Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme". Biochem. Biophys. Res. Commun. 189 (3): 1437–43. doi:10.1016/0006-291X(92)90235-D. PMID 1282802.
- Scriver CR, Clow CL, Kaplan P, Niederwieser A (1987). "Hyperphenylalaninemia due to deficiency of 6-pyruvoyl tetrahydropterin synthase. Unusual gene dosage effect in heterozygotes". Hum. Genet. 77 (2): 168–71. doi:10.1007/BF00272386. PMID 3308682.
- Oppliger T, Thöny B, Nar H, et al. (1996). "Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity". J. Biol. Chem. 270 (49): 29498–506. doi:10.1074/jbc.270.49.29498. PMID 7493990.
- Ashida A, Owada M, Hatakeyama K (1995). "A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia". Genomics. 24 (2): 408–10. doi:10.1006/geno.1994.1642. PMID 7698774.
- Thöny B, Leimbacher W, Blau N, et al. (1994). "Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase". Am. J. Hum. Genet. 54 (5): 782–92. PMC 1918260. PMID 8178819.
- Thöny B, Heizmann CW, Mattei MG (1994). "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". Genomics. 19 (2): 365–8. doi:10.1006/geno.1994.1071. PMID 8188266.
- Ashida A, Hatakeyama K, Kagamiyama H (1993). "cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase". Biochem. Biophys. Res. Commun. 195 (3): 1386–93. doi:10.1006/bbrc.1993.2197. PMID 8216273.
- Liu TT, Hsiao KJ (1996). "Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency". Hum. Genet. 98 (3): 313–6. doi:10.1007/s004390050213. PMID 8707300.
- Kluge C, Brecevic L, Heizmann CW, et al. (1996). "Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase". Eur. J. Biochem. 240 (2): 477–84. doi:10.1111/j.1432-1033.1996.0477h.x. PMID 8841415.
- Hanihara T, Inoue K, Kawanishi C, et al. (1997). "6-Pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study". Mov. Disord. 12 (3): 408–11. doi:10.1002/mds.870120321. PMID 9159737.
- Oppliger T, Thöny B, Kluge C, et al. (1997). "Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families". Hum. Mutat. 10 (1): 25–35. doi:10.1002/(SICI)1098-1004(1997)10:1<25::AID-HUMU4>3.0.CO;2-L. PMID 9222757.
- Liu TT, Hsiao KJ, Lu SF, et al. (1998). "Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency". Hum. Mutat. 11 (1): 76–83. doi:10.1002/(SICI)1098-1004(1998)11:1<76::AID-HUMU12>3.0.CO;2-W. PMID 9450907.
- Scherer-Oppliger T, Matasovic A, Laufs S, et al. (1999). "Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia". Hum. Mutat. 13 (4): 286–9. doi:10.1002/(SICI)1098-1004(1999)13:4<286::AID-HUMU4>3.0.CO;2-C. PMID 10220141.
- Scherer-Oppliger T, Leimbacher W, Blau N, Thöny B (1999). "Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II". J. Biol. Chem. 274 (44): 31341–8. doi:10.1074/jbc.274.44.31341. PMID 10531334.
- Kim ST, Lim DS, Canman CE, Kastan MB (2000). "Substrate specificities and identification of putative substrates of ATM kinase family members". J. Biol. Chem. 274 (53): 37538–43. doi:10.1074/jbc.274.53.37538. PMID 10608806.
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