Thöny B - Search Results

1

DNAJC12 deficiency: A new strategy in the diagnosis of hyperphenylalaninemias.

Blau N, Martinez A, Hoffmann GF, Thöny B. Blau N, et al. Among authors: thony b. Mol Genet Metab. 2018 Jan;123(1):1-5. doi: 10.1016/j.ymgme.2017.11.005. Epub 2017 Nov 20. Mol Genet Metab. 2018. PMID: 29174366 Review.

2

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.

3

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

4

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.

5

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.

6

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. 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.

7

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: thony b. 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.

8

Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.

Hauer CR, Rebrin I, Thöny B, Neuheiser F, Curtius HC, Hunziker P, Blau N, Ghisla S, Heizmann CW. Hauer CR, et al. Among authors: thony b. J Biol Chem. 1993 Mar 5;268(7):4828-31. J Biol Chem. 1993. PMID: 8444860 Free article.

9

Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.

Blau N, de Klerk JB, Thöny B, Heizmann CW, Kierat L, Smeitink JA, Duran M. Blau N, et al. Among authors: thony b. Biochem Mol Med. 1996 Aug;58(2):199-203. doi: 10.1006/bmme.1996.0049. Biochem Mol Med. 1996. PMID: 8812740

10

Tetrahydrobiopterin and inherited hyperphenylalaninemias.

Blau N, Thony B, Spada M, Ponzone A. Blau N, et al. Among authors: thony b. Turk J Pediatr. 1996 Jan-Mar;38(1):19-35. Turk J Pediatr. 1996. PMID: 8819618 Review.

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