Thöny B - Search Results

1

Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.

Thöny B, Leimbacher W, Stuhlmann H, Heizmann CW, Blau N. Thöny B, et al. Hum Gene Ther. 1996 Aug 20;7(13):1587-93. doi: 10.1089/hum.1996.7.13-1587. Hum Gene Ther. 1996. PMID: 8864759

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. 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

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: thony b. 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.

4

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: thony b. J Mol Biol. 1995 Oct 20;253(2):358-69. doi: 10.1006/jmbi.1995.0558. J Mol Biol. 1995. PMID: 7563095

5

Human pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor-1 alpha. Characterization and kinetic analysis of wild-type and mutant enzymes.

Köster S, Thöny B, Macheroux P, Curtius HC, Heizmann CW, Pfleiderer W, Ghisla S. Köster S, et al. Among authors: thony b. Eur J Biochem. 1995 Jul 15;231(2):414-23. doi: 10.1111/j.1432-1033.1995.tb20714.x. Eur J Biochem. 1995. PMID: 7635153 Free article.

6

Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.

Thöny B, Neuheiser F, Blau N, Heizmann CW. Thöny B, et al. Biochem Biophys Res Commun. 1995 May 25;210(3):966-73. doi: 10.1006/bbrc.1995.1751. Biochem Biophys Res Commun. 1995. PMID: 7763270

7

Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.

Thöny B, Heizmann CW, Mattei MG. Thöny B, et al. Genomics. 1995 Mar 1;26(1):168-70. doi: 10.1016/0888-7543(95)80101-q. Genomics. 1995. PMID: 7782081 No abstract available.

8

Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.

Guldberg P, Henriksen KF, Thöny B, Blau N, Güttler F. Guldberg P, et al. Among authors: thony b. Genomics. 1994 May 15;21(2):453-5. doi: 10.1006/geno.1994.1296. Genomics. 1994. PMID: 8088845 No abstract available.

9

Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis.

Nar H, Huber R, Heizmann CW, Thöny B, Bürgisser D. Nar H, et al. Among authors: thony b. EMBO J. 1994 Mar 15;13(6):1255-62. doi: 10.1002/j.1460-2075.1994.tb06377.x. EMBO J. 1994. PMID: 8137809 Free PMC article.

10

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. Am J Hum Genet. 1994 May;54(5):782-92. Am J Hum Genet. 1994. PMID: 8178819 Free PMC article.

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