W. Leimbacher

发表

Nuclear localization of tetrahydrobiopterin biosynthetic enzymes.

N. Blau, B. Thöny, D. Heerklotz, 2004, Biochimica et biophysica acta.

Clinical Chemistry 47:3 477–485 (2001) Molecular Diagnostics and Genetics Diagnosis of Dopa-responsive Dystonia and Other Tetrahydrobiopterin Disorders by the Study of Biopterin Metabolism in Fibroblasts

N. Blau, B. Thöny, L. Bonafė, 2022 .

Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration.

N. Blau, B. Thöny, B. Fiege, 2004, Molecular genetics and metabolism.

Prenatal Diagnosis of Atypical Phenylketonuria

N. Blau, T. Coşkun, M. Giovannini, 1989, Journal of Inherited Metabolic Disease.

Antenatal diagnosis of tetrahydrobiopterin deficiency by quantification of pterins in amniotic fluid and enzyme activity in fetal and extrafetal tissue.

C. Heizmann, N. Blau, A. Ponzone, 1994, Clinica chimica acta; international journal of clinical chemistry.

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

C. Heizmann, N. Blau, P. Hunziker, 1992, Biochemical and biophysical research communications.

Biosynthesis of tetrahydrobiopterin. Purification and characterization of 6-pyruvoyl-tetrahydropterin synthase from human liver.

S. Ghisla, H. Curtius, U. Redweik, 1986, European journal of biochemistry.

RECENT ADVANCES IN TETRAHYDROBIOPTERIN BIOSYNTHESIS AND THE TREATMENT OF HUMAN DISEASE

R. Levine, S. Ghisla, A. Niederwieser, 1983 .

Serotonin and dopamine synthesis in phenylketonuria.

H. Schmidt, H. Curtius, F. Rey, 1981, Advances in experimental medicine and biology.

Dwarfism and Low Insulin-like Growth Factor-1 Due to Dopamine Depletion in Pts–/– Mice Rescued by Feeding Neurotransmitter Precursors and H4-biopterin*

N. Blau, B. Thöny, B. Ledermann, 2003, Journal of Biological Chemistry.

Low tetrahydrobiopterin biosynthetic capacity of human monocytes is caused by exon skipping in 6-pyruvoyl tetrahydropterin synthase.

E. Werner, G. Werner-Felmayer, S. Hofer, 2003, The Biochemical journal.

Prenatal diagnosis in primary hyperphenylalaninemias

I. Dianzani, R. Ponzone, N. Blau, 1993 .

Isolation of 6-Pyruvoyl-tetrahydropterin Synthase cDNAs from Human Brain

C. Heizmann, N. Blau, B. Thöny, 1996 .

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

C. Heizmann, B. Thöny, D. Bürgisser, 1992, Biochemical and biophysical research communications.

Sepiapterin Reductase Deficiency: Molecular Analysis in a New Case Presenting with Neurotransmitter Deficiency without Hyperphenylalaninemia

N. Blau, J. Friedman, B. Thöny, 2002 .

“Peripheral” tetrahydrobiopterin deficiency with hyperphenylalaninaemia due to incomplete 6-pyruvoyl tetrahydropterin synthase deficiency or heterozygosity

J. Zeman, H. Shintaku, W. Endres, 1987, European Journal of Pediatrics.

1H-NMR and mass spectrometric studies of tetrahydropterins. Evidence for the structure of 6-pyruvoyl tetrahydropterin, an intermediate in the biosynthesis of tetrahydrobiopterin.

S. Ghisla, W. Richter, T. Kuster, 1990, European journal of biochemistry.

Human liver 6-pyruvoyl tetrahydropterin reductase is biochemically and immunologically indistinguishable from aldose reductase.

B. Wermuth, H. Curtius, W. Leimbacher, 1989, Biochemical and biophysical research communications.

Tetrahydrobiopterin biosynthesis. Studies with specifically labeled (2H)NAD(P)H and 2H2O and of the enzymes involved.

S. Ghisla, T. Kuster, H. Curtius, 1985, European journal of biochemistry.

Purification and properties of the phosphate eliminating enzyme involved in the biosynthesis of BH4 in man.

U. Redweik, H. Curtius, W. Leimbacher, 1985, Biochemical and biophysical research communications.

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

C. Heizmann, N. Blau, B. Thöny, 1996, Human gene therapy.

Crystallographic and kinetic investigations on the mechanism of 6-pyruvoyl tetrahydropterin synthase.

H. Nar, G. Auerbach, B. Thöny, 1999, Journal of molecular biology.

Quantitation of deuterated and non-deuterated phenylalanine and tyrosine in human plasma using the selective ion monitoring method with combined gas chromatography-mass spectrometry. Application to the in vivo measurement of phenylalanine-4-monooxygenase activity.

U. Redweik, H. Curtius, M. Zagalak, 1977, Journal of chromatography.

In vivo studies of the phenylalanine-4-hydroxylase system in hyperphenylalaninemics and phenylketonurics.

H. Curtius, U. Redweik, K. Baerlocher, 1978, Helvetica paediatrica acta.

Atypical phenylketonuria with “dihydrobiopterin synthetase” deficiency: Absence of phosphate-eliminating enzyme activity demonstrated in liver

A. Ponzone, H. Curtius, F. Rey, 1985, European Journal of Pediatrics.

Tetrahydrobiopterin deficiency: assay for 6-pyruvoyl-tetrahydropterin synthase activity in erythrocytes, and detection of patients and heterozygous carriers

H. Shintaku, H. Curtius, A. Niederwieser, 2004, European Journal of Pediatrics.

Biosynthesis of tetrahydrobiopterin in man

S. Ghisla, T. Kuster, H. Curtius, 1985, Journal of Inherited Metabolic Disease.

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

C. Heizmann, N. Blau, B. Thöny, 1993, Advances in Experimental Medicine and Biology.

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

C. Heizmann, N. Blau, B. Thöny, 1994, American journal of human genetics.

Serine 19 of Human 6-Pyruvoyltetrahydropterin Synthase Is Phosphorylated by cGMP Protein Kinase II*

N. Blau, B. Thöny, B Thöny, 1999, The Journal of Biological Chemistry.

Mutation Analysis In Patients with 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency

C. Heizmann, N. Blau, N. Brandt, 1995 .

Synthesis of enzymatically active D-7,8-dihydroneopterin-3'-triphosphate.

R. Bosshard, U. Redweik, F. Neuheiser, 1988, Biochemical and biophysical research communications.