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

Christoph Hauer, Igor Rebrin, Beat Thöny, +6

Journal of Biological Chemistry

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)

Beat Thöny, F. Neuheiser, L. Kierat, +6

The American Journal of Human Genetics

BiochemistryPcbd Gene EncodingNatural SciencesBiochemical GeneticsMolecular Biology +5

Mutations in the pterin-4α-carbinolamine dehydratase ( PCBD ) gene cause a benign form of hyperphenylalaninemia

Beat Thöny, F. Neuheiser, L. Kierat, +9

Human Genetics

Benign FormBiochemistryNatural SciencesGeneticsInherited Metabolic Disease +4

Multiple acyl-Co A dehydrogenation deficiency (MADD) in a boy with nonketotic hypoglycemia, hepatomegaly, muscle hypotonia and cardiomyopathy. Detection of N-isovalerylglutamic acid and its monoamide.

A. Niederwieser, B Steinmann, Ulrich Exner, +5

PubMed

Ventricular FibrillationBiochemistryTransient Metabolic AcidosisMedicineOmega-3 Fatty Acid +12

Characterization of the Human PCBD Gene Encoding the Bifunctional Protein Pterin-4α-carbinolamine Dehydratase/Dimerization Cofactor for the Transcription Factor Hnf-1α

Beat Thöny, F. Neuheiser, Nenad Blau, +1

Biochemical and Biophysical Research Communications

Transcriptional RegulationProtein FunctionBiochemistryNatural SciencesBiochemical Genetics +5

Detection of a Novel Variant Human Hemoglobin by Electrospray Ionization Mass Spectrometry

Heinz Troxler, F. Neuheiser, P. Kleinert, +7

Biochemical and Biophysical Research Communications

Laboratory HematologyBiochemistryNatural SciencesBioanalysisMass Spectrometry +7

6-Pyruvoyl tetrahydropterin synthase from salmon liver: Amino acid sequence analysis by tandem mass spectrometry

W. Leimbacher, Peter Hunziker, F. Neuheiser, +2

Biochemical and Biophysical Research Communications

BiosynthesisEngineeringBiotransformationBiochemistryNatural Sciences +6

New tyrosine metabolites in humans: Hawkinsin and cis- and trans-4-hydroxycyclohexylacetic acids

A. Niederwieser, A. Matasović, F. Neuheiser, +1

Journal of Chromatography B Biomedical Sciences and Applications

BiochemistryMedicineMetabolomic ProfilingSecondary MetaboliteTrans-4-hydroxycyclohexylacetic Acids +5

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-1α

Beat Thöny, F. Neuheiser, Claus W. Heizmann

Advances in experimental medicine and biology

Transcriptional RegulationProtein ExpressionFunctional IdentityBiochemistryNatural Sciences +7

Protein sequence determination by ESI-MS and LSI-MS tandem mass spectrometry: parvalbumin primary structures from cat, gerbil and monkey skeletal muscle

Werner Staudenmann, Thomas Küster, F. Neuheiser, +4

Biochimica et Biophysica Acta (BBA) - Protein Structure and Molecular Enzymology

Proteomic TechnologyBiochemistryParvalbumin Primary StructuresNatural SciencesMedicine +7