Sequence of PTPS_HUMAN

6-pyruvoyltetrahydropterin synthase

Q03393

145

16386

80562

Thoeny B.,Leimbacher W.,Buergisser D.,Heizmann C.W.

Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.

Biochem. Biophys. Res. Commun.

189

1437-1443

1992

80563

Ashida A.,Hatakeyama K.,Kagamiyama H.

cDNA cloning, expression in Escherichia coli and purification of human 6-pyruvoyl-tetrahydropterin synthase.

Biochem. Biophys. Res. Commun.

195

1386-1393

1993

80564

Ashida A.,Owada M.,Hatakeyama K.

A missense mutation (A to G) of 6-pyruvoyltetrahydropterin synthase in tetrahydrobiopterin-deficient form of hyperphenylalaninemia.

Genomics

24

408-410

1994

80565

Kluge C.,Brecevic L.,Heizmann C.W.,Blau N.,Thoeny B.

Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.

Eur. J. Biochem.

240

477-484

1996

80570

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).

Genome Res.

14

2121-2127

2004

80571

Dephoure N.,Zhou C.,Villen J.,Beausoleil S.A.,Bakalarski C.E.,Elledge S.J.,Gygi S.P.

A quantitative atlas of mitotic phosphorylation.

Proc. Natl. Acad. Sci. U.S.A.

105

10762-10767

2008

80572

Olsen J.V.,Vermeulen M.,Santamaria A.,Kumar C.,Miller M.L.,Jensen L.J.,Gnad F.,Cox J.,Jensen T.S.,Nigg E.A.,Brunak S.,Mann M.

Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.

Sci. Signal.

3

0-0

2010

80573

Zhou H.,Di Palma S.,Preisinger C.,Peng M.,Polat A.N.,Heck A.J.,Mohammed S.

Toward a comprehensive characterization of a human cancer cell phosphoproteome.

J. Proteome Res.

12

260-271

2013

80574

Bian Y.,Song C.,Cheng K.,Dong M.,Wang F.,Huang J.,Sun D.,Wang L.,Ye M.,Zou H.

An enzyme assisted RP-RPLC approach for in-depth analysis of human liver phosphoproteome.

J. Proteomics

96

253-262

2014

80575

Scherer-Oppliger T.,Leimbacher W.,Blau N.,Thoeny B.

Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.

J. Biol. Chem.

274

31341-31348

1999

80576

Thoeny B.,Blau N.

Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.

Hum. Mutat.

10

11-20

1997

80577

Thoeny B.,Leimbacher W.,Blau N.,Harvie A.,Heizmann C.W.

Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.

Am. J. Hum. Genet.

54

782-792

1994

80578

Oppliger T.,Thoeny B.,Nar H.,Buergisser D.,Huber R.,Heizmann C.W.,Blau N.

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

29498-29506

1995

80579

Liu T.T.,Hsiao K.J.

Identification of a common 6-pyruvoyl-tetrahydropterin synthase mutation at codon 87 in Chinese phenylketonuria caused by tetrahydrobiopterin synthesis deficiency.

Hum. Genet.

98

313-316

1996

80580

Oppliger T.,Thoeny B.,Kluge C.,Matasovic A.,Heizmann C.W.,Ponzone A.,Spada M.,Blau N.

Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.

Hum. Mutat.

10

25-35

1997

80581

Hanihara T.,Inoue K.,Kawanishi C.,Sugiyama N.,Miyakawa T.,Onishi H.,Yamada Y.,Osaka H.,Kosaka K.,Iwabuchi K.,Owada M.

6-pyruvoyl-tetrahydropterin synthase deficiency with generalized dystonia and diurnal fluctuation of symptoms: a clinical and molecular study.

Mov. Disord.

12

408-411

1997

80582

Liu T.-T.,Hsiao K.-J.,Lu S.-F.,Wu S.-J.,Wu K.-F.,Chiang S.-H.,Liu X.-Q.,Chen R.-G.,Yu W.-M.

Mutation analysis of the 6-pyruvoyl-tetrahydropterin synthase gene in Chinese hyperphenylalaninemia caused by tetrahydrobiopterin synthesis deficiency.

Hum. Mutat.

11

76-83

1998

80583

Romstad A.,Guldberg P.,Blau N.,Guettler F.

Single-step mutation scanning of the 6-pyruvoyltetrahydropterin synthase gene in patients with hyperphenylalaninemia.

Clin. Chem.

45

2102-2108

1999

80584

Scherer-Oppliger T.,Matasovic A.,Laufs S.,Levy H.L.,Quackenbush E.J.,Blau N.,Thoeny B.

Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.

Hum. Mutat.

13

286-289

1999

80585

Blau N.,Scherer-Oppliger T.,Baumer A.,Riegel M.,Matasovic A.,Schinzel A.,Jaeken J.,Thoeny B.

Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.

Hum. Mutat.

16

54-60

2000

80586

Dudesek A.,Roeschinger W.,Muntau A.C.,Seidel J.,Leupold D.,Thoeny B.,Blau N.

Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.

Eur. J. Pediatr.

160

267-276

2001