Heizmann CW - Search Results

1

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

Thöny B, Leimbacher W, Blau N, Harvie A, Heizmann CW. Thöny B, et al. Among authors: heizmann cw. Am J Hum Genet. 1994 May;54(5):782-92. Am J Hum Genet. 1994. PMID: 8178819 Free PMC article.

2

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

Thöny B, Leimbacher W, Bürgisser D, Heizmann CW. Thöny B, et al. Among authors: heizmann cw. Biochem Biophys Res Commun. 1992 Dec 30;189(3):1437-43. doi: 10.1016/0006-291x(92)90235-d. Biochem Biophys Res Commun. 1992. PMID: 1282802

3

Purification and characterization of 6-pyruvoyl tetrahydropterin synthase from human pituitary gland.

Guzman J, Redweik U, Schoedon G, Hunziker P, Wiestler OD, Heizmann CW, Blau N. Guzman J, et al. Among authors: heizmann cw. Enzyme. 1992;46(6):287-98. doi: 10.1159/000468806. Enzyme. 1992. PMID: 1308853

4

6-pyruvoyl tetrahydropterin synthase from salmon liver: amino acid sequence analysis by tandem mass spectrometry.

Hauer CR, Leimbacher W, Hunziker P, Neuheiser F, Blau N, Heizmann CW. Hauer CR, et al. Among authors: heizmann cw. Biochem Biophys Res Commun. 1992 Jan 31;182(2):953-9. doi: 10.1016/0006-291x(92)91824-a. Biochem Biophys Res Commun. 1992. PMID: 1734893

5

Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.

Oppliger T, Thöny B, Nar H, Bürgisser D, Huber R, Heizmann CW, Blau N. Oppliger T, et al. Among authors: heizmann cw. J Biol Chem. 1995 Dec 8;270(49):29498-506. doi: 10.1074/jbc.270.49.29498. J Biol Chem. 1995. PMID: 7493990 Free article.

6

6-Pyruvoyl tetrahydropterin synthase, an enzyme with a novel type of active site involving both zinc binding and an intersubunit catalytic triad motif; site-directed mutagenesis of the proposed active center, characterization of the metal binding site and modelling of substrate binding.

Bürgisser DM, Thöny B, Redweik U, Hess D, Heizmann CW, Huber R, Nar H. Bürgisser DM, et al. Among authors: heizmann cw. J Mol Biol. 1995 Oct 20;253(2):358-69. doi: 10.1006/jmbi.1995.0558. J Mol Biol. 1995. PMID: 7563095

7

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.

Thöny B, Heizmann CW, Mattei MG. Thöny B, et al. Among authors: heizmann cw. Genomics. 1994 Jan 15;19(2):365-8. doi: 10.1006/geno.1994.1071. Genomics. 1994. PMID: 8188266

8

Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein.

Thöny B, Leimbacher W, Blau N, Heizmann CW, Bürgisser D. Thöny B, et al. Among authors: heizmann cw. Adv Exp Med Biol. 1993;338:187-90. doi: 10.1007/978-1-4615-2960-6_37. Adv Exp Med Biol. 1993. PMID: 8304107 No abstract available.

9

Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity.

Bürgisser DM, Thöny B, Redweik U, Hunziker P, Heizmann CW, Blau N. Bürgisser DM, et al. Among authors: heizmann cw. Eur J Biochem. 1994 Jan 15;219(1-2):497-502. doi: 10.1111/j.1432-1033.1994.tb19964.x. Eur J Biochem. 1994. PMID: 8307017 Free article.

10

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

Kluge C, Brecevic L, Heizmann CW, Blau N, Thöny B. Kluge C, et al. Among authors: heizmann cw. Eur J Biochem. 1996 Sep 1;240(2):477-84. doi: 10.1111/j.1432-1033.1996.0477h.x. Eur J Biochem. 1996. PMID: 8841415 Free article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

348 results

Search Page

Filters