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Beat Thöny

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Christineh N Sarkissian; Tanja Scherer; Beat Thöny; Ming Ying; Aurora Martinez
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
M Zimmermann; Beat Thöny; T Torresani; Matthias R Baumgartner; Nenad Blau; R Fingerhut; P Jacobs; M Rohrbach
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
Jennifer Friedman; Serena Gasperini; Luis G Gutierrez-Solana; Georg F Hoffmann; Keith Hyland; Katarzyna Kusmierska; Thomas Lutz; Michel Mazzuca; Brian Neville; Ray Parascandalo; Johann Penzien; Bwee Tien Poll-The; Emmanuel Roze; Veronica Saletti; Jolanta Sykut-Cegielska; Krystyna Szymanska; Beat Thöny; Marina A J Tijssen; Gurusidheshwar M Wali; Dimitrios I Zafeiriou; Richard Chang; Patricia Dill; Bernard Echenne; Florian S Eichler; Hernan Eiroa; Alex Felice; Jose E Abdenur; Luisa Arrabal-Fernandez; Nenad Blau
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.

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All Publications

2012: Christineh N Sarkissian; Tanja Scherer; Beat Thöny; Ming Ying; Aurora Martinez
The mechanism of BH4 -responsive hyperphenylalaninemia--as it occurs in the ENU1/2 genetic mouse model.
Human mutation 2012;33(10):1464-73.
2012: M Zimmermann; Beat Thöny; T Torresani; Matthias R Baumgartner; Nenad Blau; R Fingerhut; P Jacobs; M Rohrbach
Positive effect of a simplified diet on blood phenylalanine control in different phenylketonuria variants, characterized by newborn BH4 loading test and PAH analysis.
Molecular genetics and metabolism 2012;106(3):264-8.
2012: Jennifer Friedman; Serena Gasperini; Luis G Gutierrez-Solana; Georg F Hoffmann; Keith Hyland; Katarzyna Kusmierska; Thomas Lutz; Michel Mazzuca; Brian Neville; Ray Parascandalo; Johann Penzien; Bwee Tien Poll-The; Emmanuel Roze; Veronica Saletti; Jolanta Sykut-Cegielska; Krystyna Szymanska; Beat Thöny; Marina A J Tijssen; Gurusidheshwar M Wali; Dimitrios I Zafeiriou; Richard Chang; Patricia Dill; Bernard Echenne; Florian S Eichler; Hernan Eiroa; Alex Felice; Jose E Abdenur; Luisa Arrabal-Fernandez; Nenad Blau
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy.
Annals of neurology 2012;71(4):520-30.
2012: Caroline Heintz; Aurora Martinez; Beat Thöny; Heinz Troxler; Nenad Blau
Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry.
Molecular genetics and metabolism 2012;105(4):559-65.
2011: Patricia Dill; Cornelis Jakobs; Jacques Schneider; Mustafa Tekin; Beat Thöny; Daniel Trachsel; Peter Weber; Nenad Blau
Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM).
Molecular genetics and metabolism 2011;104(3):362-8.
2011: Ernst R Werner; Nenad Blau; Beat Thöny
Tetrahydrobiopterin: biochemistry and pathophysiology.
The Biochemical journal 2011;438(3):397-414.
2011: Thomas Opladen; Anahita Rassi; Beat Thöny; Bettina Abu Seda; Georg F Hoffmann; Nenad Blau
Diagnosis of tetrahydrobiopterin deficiency using filter paper blood spots: further development of the method and 5 years experience.
Journal of inherited metabolic disease 2011;34(3):819-26.
2011: Dea Adamsen; David Meili; Nenad Blau; Beat Thöny; Vincent Ramaekers
Autism associated with low 5-hydroxyindolacetic acid in CSF and the heterozygous SLC6A4 gene Gly56Ala plus 5-HTTLPR L/L promoter variants.
Molecular genetics and metabolism 2011;102(3):368-73.
2011: Steven F Dobrowolski; Caroline Heintz; Trent Miller; Clinton Ellingson; Clifford Ellingson; Işıl Ozer; Gulden Gökçay; Tolunay Baykal; Beat Thöny; Mübeccel Demirkol; Nenad Blau
Molecular genetics and impact of residual in vitro phenylalanine hydroxylase activity on tetrahydrobiopterin responsiveness in Turkish PKU population.
Molecular genetics and metabolism 2011;102(2):116-21.
2011: Tamara B Franklin; Natacha Linder; Holger Russig; Beat Thöny; Isabelle M Mansuy
Influence of early stress on social abilities and serotonergic functions across generations in mice.
PloS one 2011;6(7):e21842.
2010: Beat Thöny
Long-term correction of murine phenylketonuria by viral gene transfer: liver versus muscle.
Journal of inherited metabolic disease 2010;33(6):677-80.
2010: Ana C Calvo; Tanja Scherer; Angel L Pey; Ming Ying; Ingeborg Winge; Jeffrey McKinney; Jan Haavik; Beat Thöny; Aurora Martinez
Effect of pharmacological chaperones on brain tyrosine hydroxylase and tryptophan hydroxylase 2.
Journal of neurochemistry 2010;114(3):853-63.
2010: Alexandre Rebuffat; Cary O Harding; Zhaobing Ding; Beat Thöny
Comparison of adeno-associated virus pseudotype 1, 2, and 8 vectors administered by intramuscular injection in the treatment of murine phenylketonuria.
Human gene therapy 2010;21(4):463-77.
2009: Iva Karacić; David Meili; Vladimir Sarnavka; Caroline Heintz; Beat Thöny; Danijela Petković Ramadza; Ksenija Fumić; Dusko Mardesić; Ivo Barić; Nenad Blau
Genotype-predicted tetrahydrobiopterin (BH4)-responsiveness and molecular genetics in Croatian patients with phenylalanine hydroxylase (PAH) deficiency.
Molecular genetics and metabolism 2009;97(3):165-71.
2009: David Meili; Jana Kralovicova; Julian Zagalak; Luisa Bonafé; Laura Fiori; Nenad Blau; Beat Thöny; Igor Vorechovsky
Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail.
Human mutation 2009;30(5):823-31.
2009: Nenad Blau; Beat Thöny
Tetrahydrobiopterin in biomedical research.
Journal of inherited metabolic disease 2009;32(1):1-2.
2008: Angel L Pey; Ming Ying; Nunilo Cremades; Adrian Velazquez-Campoy; Tanja Scherer; Beat Thöny; javier sancho; Aurora Martinez
Identification of pharmacological chaperones as potential therapeutic agents to treat phenylketonuria.
The Journal of clinical investigation 2008;118(8):2858-67.
2008: Marcel M Verbeek; Michèl A A P Willemsen; Ron A Wevers; Aart J Lagerwerf; N G G M Abeling; Nenad Blau; Beat Thöny; Euthymia Vargiami; Dimitrios I Zafeiriou
Two Greek siblings with sepiapterin reductase deficiency.
Molecular genetics and metabolism 2008;94(4):403-9.
2008: Jan Haavik; Nenad Blau; Beat Thöny
Mutations in human monoamine-related neurotransmitter pathway genes.
Human mutation 2008;29(7):891-902.
2008: Beat Thöny; Ana C Calvo; Tanja Scherer; Randi M Svebak; Jan Haavik; Nenad Blau; Aurora Martinez
Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase.
Journal of neurochemistry 2008;106(2):672-81.
2008: Zhaobing Ding; Cary O Harding; Alexandre Rebuffat; Lina Elzaouk; Jon A Wolff; Beat Thöny
Correction of murine PKU following AAV-mediated intramuscular expression of a complete phenylalanine hydroxylating system.
Molecular therapy : the journal of the American Society of Gene Therapy 2008;16(4):673-81.
2008: Marcel R Zurflüh; Johannes Zschocke; Martin Lindner; François Feillet; Céline Chery; Alberto Burlina; Raymond C Stevens; Beat Thöny; Nenad Blau
Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency.
Human mutation 2008;29(1):167-75.
2007: Julian Widder; Wei Chen; Li Li; Sergey Dikalov; Beat Thöny; Kazuyuki Hatakeyama; David G Harrison
Regulation of tetrahydrobiopterin biosynthesis by shear stress.
Circulation research 2007;101(8):830-8.
2006: Marcel R Zurflüh; Laura Fiori; Betina Fiege; I Ozen; M Demirkol; K H Gärtner; Beat Thöny; Marcello Giovannini; Nenad Blau
Pharmacokinetics of orally administered tetrahydrobiopterin in patients with phenylalanine hydroxylase deficiency.
Journal of inherited metabolic disease 2006;29(6):725-31.
2006: Bernard Echenne; Agathe Roubertie; Birgit Assmann; Thomas Lutz; Johann M Penzien; Beat Thöny; Nenad Blau; Georg F Hoffmann
Sepiapterin reductase deficiency: clinical presentation and evaluation of long-term therapy.
Pediatric neurology 2006;35(5):308-13.
2006: Beat Thöny; Nenad Blau
Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase.
Human mutation 2006;27(9):870-8.
2006: N G G M Abeling; Marinus Duran; Henk D Bakker; Lida Stroomer; Beat Thöny; Nenad Blau; Jan Booij; Bwee Tien Poll-The
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia.
Molecular genetics and metabolism 2006;89(1-2):116-20.
2006: Zhaobing Ding; P Georgiev; Beat Thöny
Administration-route and gender-independent long-term therapeutic correction of phenylketonuria (PKU) in a mouse model by recombinant adeno-associated virus 8 pseudotyped vector-mediated gene transfer.
Gene therapy 2006;13(7):587-93.
2005: Rossana Scavelli; Zhaobing Ding; Nenad Blau; Jan Haavik; Aurora Martínez; Beat Thöny
Stimulation of hepatic phenylalanine hydroxylase activity but not Pah-mRNA expression upon oral loading of tetrahydrobiopterin in normal mice.
Molecular genetics and metabolism 2005;86 Suppl 1():S153-5.
2005: Betina Fiege; Luisa Bonafé; Diana Ballhausen; Matthias Baumgartner; Beat Thöny; David Meili; Laura Fiori; Marcello Giovannini; Nenad Blau
Extended tetrahydrobiopterin loading test in the diagnosis of cofactor-responsive phenylketonuria: a pilot study.
Molecular genetics and metabolism 2005;86 Suppl 1():S91-5.
2005: Marcel R Zurflüh; Marcello Giovannini; Laura Fiori; Betina Fiege; Yasemin Gokdemir; Tolunay Baykal; Lucja Kierat; Konrad H Gärtner; Beat Thöny; Nenad Blau
Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper.
Molecular genetics and metabolism 2005;86 Suppl 1():S96-103.
2005: Ali Sajadi; Matthias Bauer; Beat Thöny; Patrick Aebischer
Long-term glial cell line-derived neurotrophic factor overexpression in the intact nigrostriatal system in rats leads to a decrease of dopamine and increase of tetrahydrobiopterin production.
Journal of neurochemistry 2005;93(6):1482-6.
2005: Thomas Opladen; Marcel R Zurflüh; Ilse Kern; Lucja Kierat; Beat Thöny; Nenad Blau
Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria.
European journal of pediatrics 2005;164(6):395-6.
2004: Beat Thöny; Zhaobing Ding; Aurora Martínez
Tetrahydrobiopterin protects phenylalanine hydroxylase activity in vivo: implications for tetrahydrobiopterin-responsive hyperphenylalaninemia.
FEBS letters 2004;577(3):507-11.
2004: Beat Thöny; Nenad Blau
More transgenic mouse models of dopamine deficiency.
Annals of neurology 2004;55(2):297-8.
2004: Lina Elzaouk; Stephanie Laufs; Dirk Heerklotz; Walter Leimbacher; Nenad Blau; Annette Résibois; Beat Thöny
Nuclear localization of tetrahydrobiopterin biosynthetic enzymes.
Biochimica et biophysica acta 2004;1670(1):56-68.
2004: Cary O Harding; Mark Neff; Krzysztof Wild; Kelly Jones; Lina Elzaouk; Beat Thöny; Sheldon Milstien
The fate of intravenously administered tetrahydrobiopterin and its implications for heterologous gene therapy of phenylketonuria.
Molecular genetics and metabolism 2004;81(1):52-7.
2004: Betina Fiege; Diana Ballhausen; Lucja Kierat; Walter Leimbacher; Dimitri Goriounov; Bernhard Schircks; Beat Thöny; Nenad Blau
Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.
Molecular genetics and metabolism 2004;81(1):45-51.
2004: Zhaobing Ding; Cary O Harding; Beat Thöny
State-of-the-art 2003 on PKU gene therapy.
Molecular genetics and metabolism 2004;81(1):3-8.
2003: Nenad Blau; Luisa Bonafé; I Krägeloh-Mann; Beat Thöny; Lucja Kierat; M Häusler; Vincent T Ramaekers
Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: a new phenotype.
Neurology 2003;61(5):642-7.
2003: Karin L Leitner; Martina Meyer; Walter Leimbacher; Anja Peterbauer; Susanne Hofer; Christine Heufler; Angelika Müller; Regine Heller; Ernst R Werner; Beat Thöny; Gabriele Werner-Felmayer
Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.
The Biochemical journal 2003;373(Pt 3):681-8.
2003: Nenad Blau; Beat Thöny
Possible impact of tetrahydrobiopterin and sepiapterin on endothelial dysfunction.
Arteriosclerosis, thrombosis, and vascular biology 2003;23(5):913-4; author reply 914-5.
2002: Giovanna Zorzi; Udo Redweik; Heike Trippe; Johann M Penzien; Beat Thöny; Nenad Blau
Detection of sepiapterin in CSF of patients with sepiapterin reductase deficiency.
Molecular genetics and metabolism 2002;75(2):174-7.
2002: Giovanna Zorzi; Beat Thöny; Nenad Blau
Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency.
Journal of neurochemistry 2002;80(2):362-4.
2001: Nenad Blau; Luisa Bonafé; Beat Thöny
Tetrahydrobiopterin deficiencies without hyperphenylalaninemia: diagnosis and genetics of dopa-responsive dystonia and sepiapterin reductase deficiency.
Molecular genetics and metabolism 2001;74(1-2):172-85.
2001: Luisa Bonafé; Beat Thöny; Johann M Penzien; B Czarnecki; Nenad Blau
Mutations in the sepiapterin reductase gene cause a novel tetrahydrobiopterin-dependent monoamine-neurotransmitter deficiency without hyperphenylalaninemia.
American journal of human genetics 2001;69(2):269-77.
2001: A Dudesek; Wulf Röschinger; Ania C Muntau; J Seidel; D Leupold; Beat Thöny; Nenad Blau
Molecular analysis and long-term follow-up of patients with different forms of 6-pyruvoyl-tetrahydropterin synthase deficiency.
European journal of pediatrics 2001;160(5):267-76.
2001: Luisa Bonafé; Beat Thöny; Walter Leimbacher; Lucja Kierat; Nenad Blau
Diagnosis of dopa-responsive dystonia and other tetrahydrobiopterin disorders by the study of biopterin metabolism in fibroblasts.
Clinical chemistry 2001;47(3):477-85.
2000: June E Ayling; Steven W Bailey; S R Boerth; R Giugliani; CP Braegger; Beat Thöny; Nenad Blau
Hyperphenylalaninemia and 7-pterin excretion associated with mutations in 4a-hydroxy-tetrahydrobiopterin dehydratase/DCoH: analysis of enzyme activity in intestinal biopsies.
Molecular genetics and metabolism 2000;70(3):179-88.
2000: Beat Thöny; Guenter Auerbach; N Blau
Tetrahydrobiopterin biosynthesis, regeneration and functions.
The Biochemical journal 2000;347 Pt 1():1-16.
2000: V Depaepe; L Cuvelier; Beat Thöny; Annette Résibois
Pterin-4alpha-carbinolamine dehydratase in rat brain. I. Patterns of co-localization with tyrosine hydroxylase.
Brain research. Molecular brain research 2000;75(1):76-88.
2000: Nenad Blau; T Scherer-Oppliger; Alessandra Baumer; Mariluce Riegel; A Matasovic; A Schinzel; J Jaeken; Beat Thöny
Isolated central form of tetrahydrobiopterin deficiency associated with hemizygosity on chromosome 11q and a mutant allele of PTPS.
Human mutation 2000;16(1):54-60.
2000: Stephanie Laufs; S H Kim; S Kim; Nenad Blau; Beat Thöny
Reconstitution of a metabolic pathway with triple-cistronic IRES-containing retroviral vectors for correction of tetrahydrobiopterin deficiency.
The journal of gene medicine 2000;2(1):22-31.
1999: T Scherer-Oppliger; Walter Leimbacher; Nenad Blau; Beat Thöny
Serine 19 of human 6-pyruvoyltetrahydropterin synthase is phosphorylated by cGMP protein kinase II.
The Journal of biological chemistry 1999;274(44):31341-8.
1999: R Eskinazi; Beat Thöny; M Svoboda; P Robberecht; D Dassesse; Claus W Heizmann; Jean-Luc Van Laethem; A Resibois
Overexpression of pterin-4a-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor 1 in human colon cancer.
The American journal of pathology 1999;155(4):1105-13.
1999: Annette Résibois; L Cuvelier; M Svoboda; Claus W Heizmann; Beat Thöny
Immunohistochemical localisation of pterin-4alpha-carbinolamine dehydratase in rat peripheral organs.
Histochemistry and cell biology 1999;111(5):381-90.
1999: Nenad Blau; Beat Thöny; A Renneberg; Johann M Penzien; Keith Hyland; Georg F Hoffmann
Variant of dihydropteridine reductase deficiency without hyperphenylalaninaemia: effect of oral phenylalanine loading.
Journal of inherited metabolic disease 1999;22(3):216-20.
1999: Ploom Tarmo; Beat Thöny; J Yim; S Lee; Herbert Nar; Walter Leimbacher; J Richardson; Robert Huber; Guenter Auerbach
Crystallographic and kinetic investigations on the mechanism of 6-pyruvoyl tetrahydropterin synthase.
Journal of molecular biology 1999;286(3):851-60.
1999: T Scherer-Oppliger; A Matasovic; Stephanie Laufs; H L Levy; Elizabeth J Quackenbush; Nenad Blau; Beat Thöny
Dominant negative allele (N47D) in a compound heterozygote for a variant of 6-pyruvoyltetrahydropterin synthase deficiency causing transient hyperphenylalaninemia.
Human mutation 1999;13(4):286-9.
1998: M O Turri; EC Ilg; Beat Thöny; Nenad Blau
Structure, genomic localization and recombinant expression of the mouse 6-pyruvoyl-tetrahydropterin synthase gene.
Biological chemistry 1998;379(12):1441-7.
1998: I Rebrin; Beat Thöny; Steven W Bailey; June E Ayling
Stereospecificity and catalytic function of histidine residues in 4a-hydroxy-tetrahydropterin dehydratase/DCoH.
Biochemistry 1998;37(32):11246-54.
1998: Beat Thöny; Frank Neuheiser; Lucja Kierat; M O Rolland; P Guibaud; T Schlüter; R Germann; R A Heidenreich; M Duran; J B de Klerk; June E Ayling; Nenad Blau
Mutations in the pterin-4alpha-carbinolamine dehydratase (PCBD) gene cause a benign form of hyperphenylalaninemia.
Human genetics 1998;103(2):162-7.
1998: Stephanie Laufs; Nenad Blau; Beat Thöny
Retrovirus-mediated double transduction of the GTPCH and PTPS genes allows 6-pyruvoyltetrahydropterin synthase-deficient human fibroblasts to synthesize and release tetrahydrobiopterin.
Journal of neurochemistry 1998;71(1):33-40.
1998: Nenad Blau; Beat Thöny; A Renneberg; Lauren A Arnold; Keith Hyland
Dihydropteridine reductase deficiency localized to the central nervous system.
Journal of inherited metabolic disease 1998;21(4):433-4.
1998: Beat Thöny; Frank Neuheiser; Lucja Kierat; M Blaskovics; P H Arn; P Ferreira; I Rebrin; June E Ayling; Nenad Blau
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).
American journal of human genetics 1998;62(6):1302-11.
1997: CP Braegger; MG Schwöbel; J Känel; Ernst R Werner; Beat Thöny; Nenad Blau
Tetrahydrobiopterin in the treatment of infantile hypertrophic pyloric stenosis.
Biochemical and molecular medicine 1997;62(1):101-5.
1997: T Oppliger; Beat Thöny; C Kluge; A Matasovic; C W Heizmann; A Ponzone; M Spada; Nenad Blau
Identification of mutations causing 6-pyruvoyl-tetrahydropterin synthase deficiency in four Italian families.
Human mutation 1997;10(1):25-35.
1997: Beat Thöny; Nenad Blau
Mutations in the GTP cyclohydrolase I and 6-pyruvoyl-tetrahydropterin synthase genes.
Human mutation 1997;10(1):11-20.
1996: C Kluge; Lukrecija Brecevic; Claus W Heizmann; Nenad Blau; Beat Thöny
Chromosomal localization, genomic structure and characterization of the human gene and a retropseudogene for 6-pyruvoyltetrahydropterin synthase.
European journal of biochemistry / FEBS 1996;240(2):477-84.
1996: Beat Thöny; Walter Leimbacher; H Stuhlmann; Claus W Heizmann; Nenad Blau
Retrovirus-mediated gene transfer of 6-pyruvoyl-tetrahydropterin synthase corrects tetrahydrobiopterin deficiency in fibroblasts from hyperphenylalaninemic patients.
Human gene therapy 1996;7(13):1587-93.
1996: Nenad Blau; J B de Klerk; Beat Thöny; Claus W Heizmann; Lucja Kierat; Jan A M Smeitink; M Duran
Tetrahydrobiopterin loading test in xanthine dehydrogenase and molybdenum cofactor deficiencies.
Biochemical and molecular medicine 1996;58(2):199-203.
1995: T Oppliger; Beat Thöny; Herbert Nar; D Bürgisser; Robert Huber; Claus W Heizmann; Nenad Blau
Structural and functional consequences of mutations in 6-pyruvoyltetrahydropterin synthase causing hyperphenylalaninemia in humans. Phosphorylation is a requirement for in vivo activity.
The Journal of biological chemistry 1995;270(49):29498-506.
1995: D M Bürgisser; Beat Thöny; U Redweik; daniel Hess; Claus W Heizmann; Robert Huber; Herbert Nar
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.
Journal of molecular biology 1995;253(2):358-69.
1995: S Köster; Beat Thöny; Peter Macheroux; H C Curtius; C W Heizmann; Wolfgang Pfleiderer; Sandro Ghisla
Human pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor of hepatocyte nuclear factor-1 alpha. Characterization and kinetic analysis of wild-type and mutant enzymes.
European journal of biochemistry / FEBS 1995;231(2):414-23.
1995: Beat Thöny; Frank Neuheiser; Nenad Blau; Claus W Heizmann
Characterization of the human PCBD gene encoding the bifunctional protein pterin-4 alpha-carbinolamine dehydratase/dimerization cofactor for the transcription factor HNF-1 alpha.
Biochemical and biophysical research communications 1995;210(3):966-73.
1995: Beat Thöny; Claus W Heizmann; M G Mattei
Human GTP-cyclohydrolase I gene and sepiapterin reductase gene map to region 14q21-q22 and 2p14-p12, respectively, by in situ hybridization.
Genomics 1995;26(1):168-70.
1994: Beat Thöny; Walter Leimbacher; Nenad Blau; A Harvie; Claus W Heizmann
Hyperphenylalaninemia due to defects in tetrahydrobiopterin metabolism: molecular characterization of mutations in 6-pyruvoyl-tetrahydropterin synthase.
American journal of human genetics 1994;54(5):782-92.
1994: Herbert Nar; Robert Huber; Claus W Heizmann; Beat Thöny; D Bürgisser
Three-dimensional structure of 6-pyruvoyl tetrahydropterin synthase, an enzyme involved in tetrahydrobiopterin biosynthesis.
The EMBO journal 1994;13(6):1255-62.
1994: D M Bürgisser; Beat Thöny; U Redweik; Peter Hunziker; Claus W Heizmann; Nenad Blau
Expression and characterization of recombinant human and rat liver 6-pyruvoyl tetrahydropterin synthase. Modified cysteine residues inhibit the enzyme activity.
European journal of biochemistry / FEBS 1994;219(1-2):497-502.
1994: Beat Thöny; Claus W Heizmann; M G Mattei
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.
Genomics 1994;19(2):365-8.
1993: C R Hauer; I Rebrin; Beat Thöny; Frank Neuheiser; H C Curtius; Peter Hunziker; Nenad Blau; Sandro Ghisla; Claus W Heizmann
Phenylalanine hydroxylase-stimulating protein/pterin-4 alpha-carbinolamine dehydratase from rat and human liver. Purification, characterization, and complete amino acid sequence.
The Journal of biological chemistry 1993;268(7):4828-31.
1993: Beat Thöny; Walter Leimbacher; Nenad Blau; Claus W Heizmann; D Bürgisser
Human liver 6-pyruvoyl-tetrahydropterin synthase: expression of the cDNA, purification and preliminary characterization of the recombinant protein.
Advances in experimental medicine and biology 1993;338():187-90.
1993: Beat Thöny; Frank Neuheiser; C R Hauer; Claus W Heizmann
Molecular cloning and recombinant expression of the human liver phenylalanine hydroxylase stimulating factor revealed structural and functional identity to the dimerization cofactor for the nuclear transcription factor HNF-1 alpha.
Advances in experimental medicine and biology 1993;338():103-6.
1992: Beat Thöny; Walter Leimbacher; D Bürgisser; Claus W Heizmann
Human 6-pyruvoyltetrahydropterin synthase: cDNA cloning and heterologous expression of the recombinant enzyme.
Biochemical and biophysical research communications 1992;189(3):1437-43.