B Thony

Summary

Affiliation: University of Zurich
Country: Switzerland

Publications

  1. ncbi Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)
    B Thony
    Department of Pediatrics, University of Zurich, Zurich, Switzerland
    Am J Hum Genet 62:1302-11. 1998
  2. ncbi Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
    T Oppliger
    Department of Pediatrics, University of Zurich, Switzerland
    Hum Mutat 10:25-35. 1997
  3. ncbi Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Clin Chem 47:477-85. 2001
  4. ncbi Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II
    T Scherer-Oppliger
    Department of Pediatrics, Division of Clinical Chemistry and Biochemistry, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    J Biol Chem 274:31341-8. 1999
  5. ncbi Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase
    C Kluge
    Department of Pediatrics, University of Zurich, Switzerland
    Eur J Biochem 240:477-84. 1996
  6. ncbi Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies
    N Blau
    Division of Clinical Chemistry, University of Zurich, Zurich, Switzerland
    Biochem Mol Med 58:199-203. 1996
  7. ncbi Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Am J Hum Genet 54:782-92. 1994
  8. ncbi Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
    T Scherer-Oppliger
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 13:286-9. 1999
  9. ncbi Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 26:168-70. 1995
  10. ncbi 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
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 19:365-8. 1994

Collaborators

Detail Information

Publications20

  1. ncbi Hyperphenylalaninemia with high levels of 7-biopterin is associated with mutations in the PCBD gene encoding the bifunctional protein pterin-4a-carbinolamine dehydratase and transcriptional coactivator (DCoH)
    B Thony
    Department of Pediatrics, University of Zurich, Zurich, Switzerland
    Am J Hum Genet 62:1302-11. 1998
    ..These data support the proposal that HPA in combination with urinary primapterin may be due to autosomal recessive inheritance of mutations in the PCBD gene specifically affecting the dehydratase activity...
  2. ncbi Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families
    T Oppliger
    Department of Pediatrics, University of Zurich, Switzerland
    Hum Mutat 10:25-35. 1997
    ..K129E appears thus as a mutant PTPS whose activity depends on the cell type...
  3. ncbi Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts
    L Bonafe
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Clin Chem 47:477-85. 2001
    ..The aim of the study was to determine the utility of cultured skin fibroblasts for the diagnosis of these diseases...
  4. ncbi Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II
    T Scherer-Oppliger
    Department of Pediatrics, Division of Clinical Chemistry and Biochemistry, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    J Biol Chem 274:31341-8. 1999
    ..These results suggest that Ser(19) of human PTPS may be a substrate for cGKII phosphorylation also in vivo, a modification that is essential for normal activity...
  5. ncbi Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase
    C Kluge
    Department of Pediatrics, University of Zurich, Switzerland
    Eur J Biochem 240:477-84. 1996
    ..1994) Genomics 24,408-410]. By means of intron-specific primers, we amplified exon 3 from genomic DNA of a PTPS-deficient patient and found a mutation in the 3' acceptor splice site, which is responsible for skipping of exon 3...
  6. ncbi Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies
    N Blau
    Division of Clinical Chemistry, University of Zurich, Zurich, Switzerland
    Biochem Mol Med 58:199-203. 1996
    ..Evidence was obtained for the in vivo involvement of xanthine dehydrogenase in the conversion of pterin to isoxanthopterin. This test could be a sensitive marker for the establishment of residual enzyme activity...
  7. ncbi Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Am J Hum Genet 54:782-92. 1994
    ..coli, and are thus believed to be the molecular cause for the BH4 deficiency. This is the first report describing mutations in PTPS that lead to BH4 deficiency...
  8. ncbi Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia
    T Scherer-Oppliger
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 13:286-9. 1999
    ..The specifically low PTPS activity in the mother's cells corroborated the evidence of a dominant negative effect of the maternal N47D allele on wild-type PTPS...
  9. ncbi Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 26:168-70. 1995
  10. ncbi 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
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Genomics 19:365-8. 1994
    ..In this report, we localized the two genes on the human chromosomes by in situ hybridization. The PTS gene was mapped to the chromosomal region 11q22.3-q23.3, and the PCD/DCOH gene was mapped to the 10q22 band of the genome...
  11. ncbi Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency
    M R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Inherit Metab Dis 29:725-31. 2006
    ..An additional 36 patients with mild hyperphenylalaninaemia (HPA) who underwent the combined loading test with Phe+BH(4) were all responders. Slow responders and non-responders were found in all groups of HPA...
  12. ncbi Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, Zurich, 8032, Switzerland
    Mol Genet Metab 74:172-85. 2001
    ....
  13. ncbi Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia
    B Thony
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Genet 103:162-7. 1998
    ..One sibling was found to be unaffected. These results further substantiate the idea that primapterinuria is associated with mutations in the PCBD gene...
  14. ncbi Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene
    M O Turri
    Department of Pediatrics, University of Zurich, Switzerland
    Biol Chem 379:1441-7. 1998
    ..The kinetic properties of the recombinant protein, apparent Km of approximately 10 microM and k(cat) of 0.27 s(-1), were similar to the native mouse enzyme in liver and brain extracts, and to the corresponding human and rat PTPS...
  15. ncbi Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha
    B Thony
    Department of Pediatrics, University of Zurich, Switzerland
    Biochem Biophys Res Commun 210:966-73. 1995
    ....
  16. ncbi Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype
    N Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Neurology 61:642-7. 2003
    ..To describe three unrelated children with a distinctive variant of Aicardi-Goutières syndrome (AGS) characterized by microcephaly, severe mental and motor retardation, dyskinesia or spasticity, and occasional seizures...
  17. ncbi Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence
    C R Hauer
    Department of Pediatrics, University of Zurich, Switzerland
    J Biol Chem 268:4828-31. 1993
    ..M., Khavari, P. A., Conley, P. B., Graves, M. K., Hansen, L. P., Admon, A., and Crabtree, G. R. (1991) Science 254, 1762-1767)...
  18. ncbi Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis
    M Zimmermann
    Division of Metabolism, University Children s Hospital and Children s Research Center, Zurich, Switzerland
    Mol Genet Metab 106:264-8. 2012
    ..Thus, a simpler approach to dietary treatment of PKU available to all HPA patients is more likely to be accepted and adhered by patients and might also increase quality of life...
  19. ncbi Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes
    B Thony
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 10:11-20. 1997
    ....
  20. ncbi Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity
    T Oppliger
    Department of Pediatrics, University of Zurich, Switzerland
    J Biol Chem 270:29498-506. 1995
    ..Our results demonstrate that PTPS undergoes protein phosphorylation and requires additional, not yet identified post-translational modification(s) for its in vivo function...