Nenad Blau

Summary

Affiliation: University Children's Hospital
Country: Switzerland

Publications

  1. doi request reprint Phenylketonuria
    Nenad Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Lancet 376:1417-27. 2010
  2. doi request reprint Management of phenylketonuria in Europe: survey results from 19 countries
    Nenad Blau
    University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 99:109-15. 2010
  3. doi request reprint Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria
    Nenad Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Mol Genet Metab 96:158-63. 2009
  4. doi request reprint Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
    Nenad Blau
    University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 104:S2-9. 2011
  5. ncbi request reprint Gene expression profiling of inflamed human endothelial cells and influence of activated protein C
    Nicola Franscini
    Medical Clinic B Research Unit, Department of Medicine, University Hospital, Zurich, Switzerland
    Circulation 110:2903-9. 2004
  6. ncbi request reprint Functional tetrahydrobiopterin synthesis in human platelets
    Nicola Franscini
    Medical Clinic B Research Unit, Department of Medicine, University Hospital, Zurich, Switzerland
    Circulation 110:186-92. 2004
  7. ncbi request reprint Nuclear localization of tetrahydrobiopterin biosynthetic enzymes
    Lina Elzaouk
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Biochim Biophys Acta 1670:56-68. 2004
  8. doi request reprint Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11
    Caroline Heintz
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 106:403-11. 2012
  9. ncbi request reprint Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Marcel R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 29:167-75. 2008
  10. doi request reprint Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry
    Caroline Heintz
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 105:559-65. 2012

Collaborators

Detail Information

Publications28

  1. doi request reprint Phenylketonuria
    Nenad Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Lancet 376:1417-27. 2010
    ..Possible future treatments include enzyme substitution with phenylalanine ammonia lyase, which degrades phenylalanine, and gene therapy to restore phenylalanine hydroxylase activity...
  2. doi request reprint Management of phenylketonuria in Europe: survey results from 19 countries
    Nenad Blau
    University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 99:109-15. 2010
    ..There is an urgent need to pool long-term data in PKU registries in order to generate an evidence-based international guideline...
  3. doi request reprint Optimizing the use of sapropterin (BH(4)) in the management of phenylketonuria
    Nenad Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Mol Genet Metab 96:158-63. 2009
    ..Overall, sapropterin represents a major advance in the management of PKU...
  4. doi request reprint Diagnosis, classification, and genetics of phenylketonuria and tetrahydrobiopterin (BH4) deficiencies
    Nenad Blau
    University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 104:S2-9. 2011
    ..The rate of Phe metabolic disposal after Phe challenge may be an additional useful tool in the interpretation of phenotype-genotype correlation...
  5. ncbi request reprint Gene expression profiling of inflamed human endothelial cells and influence of activated protein C
    Nicola Franscini
    Medical Clinic B Research Unit, Department of Medicine, University Hospital, Zurich, Switzerland
    Circulation 110:2903-9. 2004
    ..We studied gene expression profiles in human coronary artery endothelial cells (HCAECs) exposed to proinflammatory stimuli and the influence of APC on expression of candidate genes regulated by these stimuli...
  6. ncbi request reprint Functional tetrahydrobiopterin synthesis in human platelets
    Nicola Franscini
    Medical Clinic B Research Unit, Department of Medicine, University Hospital, Zurich, Switzerland
    Circulation 110:186-92. 2004
    ..Tetrahydrobiopterin (BH4) is an essential cofactor and regulator of NO synthase activity in the vasculature; however, it is as yet unknown whether platelets dispose over a functional BH4 synthesis...
  7. ncbi request reprint Nuclear localization of tetrahydrobiopterin biosynthetic enzymes
    Lina Elzaouk
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Biochim Biophys Acta 1670:56-68. 2004
    ..The in vitro studies together with the tissue staining corroborate specific nuclear localization of BH(4)-biosynthetic proteins with yet unknown biological function...
  8. doi request reprint Splicing of phenylalanine hydroxylase (PAH) exon 11 is vulnerable: molecular pathology of mutations in PAH exon 11
    Caroline Heintz
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 106:403-11. 2012
    ..Exonic mutations that disrupt splicing are unlikely to facilitate response to BH(4) and may lead to inconsistent genotype-phenotype correlations. Therefore, recognizing such mutations enhances our ability to predict the BH(4)-response...
  9. ncbi request reprint Molecular genetics of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Marcel R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 29:167-75. 2008
    ..L48S, p.I65 T, p.R158Q, p.R261Q, and p.Y414C. Our data suggest that BH(4)-responsiveness may be more common than assumed and to some extent may be predicted or excluded from the patient's genotype...
  10. doi request reprint Quantification of phenylalanine hydroxylase activity by isotope-dilution liquid chromatography-electrospray ionization tandem mass spectrometry
    Caroline Heintz
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 105:559-65. 2012
    ..Activity of in vitro expressed mutant PAH may predict the patient's phenotype and response to tetrahydrobiopterin (BH(4)), the cofactor of PAH...
  11. ncbi request reprint Screening for tetrahydrobiopterin deficiencies using dried blood spots on filter paper
    Marcel R Zurflüh
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 86:S96-103. 2005
    ....
  12. ncbi request reprint Dwarfism and low insulin-like growth factor-1 due to dopamine depletion in Pts-/- mice rescued by feeding neurotransmitter precursors and H4-biopterin
    Lina Elzaouk
    Division of Clinical Chemistry and Biochemistry, Department of Pediatrics, Division of Animal Facility, University of Zurich, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    J Biol Chem 278:28303-11. 2003
    ..This is the first link shown between 6-pyruvoyltetrahydropterin synthase- or BH4-biosynthetic activity and IGF-1...
  13. ncbi request reprint Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency
    Leandra Jäggi
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, CH 8032 Zurich, Switzerland
    Mol Genet Metab 93:295-305. 2008
    ..Our data suggest that diagnosis within the first month of life is essential for a good outcome and that low CSF5 HIAA and HVA values in CSF could be an indicator for the ongoing developmental impairment..
  14. doi request reprint Tetrahydrobiopterin, its mode of action on phenylalanine hydroxylase, and importance of genotypes for pharmacological therapy of phenylketonuria
    Caroline Heintz
    University Children s Hospital, Zurich, Switzerland
    Hum Mutat 34:927-36. 2013
    ..The treatment of the transfected cells with tetrahydrobiopterin showed an increase in residual PAH activity with several mutations coexpressed...
  15. ncbi request reprint Mutations in the BH4-metabolizing genes GTP cyclohydrolase I, 6-pyruvoyl-tetrahydropterin synthase, sepiapterin reductase, carbinolamine-4a-dehydratase, and dihydropteridine reductase
    Beat Thony
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Hum Mutat 27:870-8. 2006
    ..Details on all mutations presented here are constantly updated in the BIOMDB database (www.bh4.org)...
  16. ncbi request reprint Assessment of tetrahydrobiopterin (BH4) responsiveness in phenylketonuria
    Betina Fiege
    Division of Metabolism and Molecular Pediatrics, University Children s Hospital, Zurich, Switzerland
    J Pediatr 150:627-30. 2007
    ..To determine the prevalence of and identify subjects with phenylketonuria (PKU; phenylalanine hydroxylase deficiency) responsive to 6R-tetrahydrobiopterin (BH4) and to establish selection criteria for potential treatment with BH4...
  17. ncbi request reprint The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency
    Nenad Blau
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mol Genet Metab 82:101-11. 2004
    ..This review will focus on laboratory investigations and possible molecular and structural mechanisms involved in this process...
  18. ncbi request reprint Plasma tetrahydrobiopterin and its pharmacokinetic following oral administration
    Betina Fiege
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Mol Genet Metab 81:45-51. 2004
    ..Assessment of plasma BH(4) or total biopterin concentrations may be a good way to control the efficacy of the loading test...
  19. doi request reprint Tetrahydrobiopterin shows chaperone activity for tyrosine hydroxylase
    Beat Thony
    Department of Pediatrics, University of Zurich, Zurich, Switzerland
    J Neurochem 106:672-81. 2008
    ..Furthermore, BH(4) supplementation arises as a putative therapeutic agent in the treatment of brain disorders associated with TH misfolding, such as for the human TH isoform 1 mutation L205P...
  20. ncbi request reprint Critical role of interleukin-1beta for transcriptional regulation of endothelial 6-pyruvoyltetrahydropterin synthase
    Nicola Franscini
    Medical Clinic B Research Unit, Department of Medicine, University Hospital, Zurich, Switzerland
    Arterioscler Thromb Vasc Biol 23:e50-3. 2003
    ..Herein we investigated the molecular mechanism and relevance of cytokine-dependent regulation of 6-pyruvoyltetrahydropterin synthase (PTPS), the second enzyme in BH4 synthesis, in human coronary artery endothelial cells (HCAECs)...
  21. doi request reprint Disease-causing mutations improving the branch site and polypyrimidine tract: pseudoexon activation of LINE-2 and antisense Alu lacking the poly(T)-tail
    David Meili
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital Zurich, Switzerland
    Hum Mutat 30:823-31. 2009
    ....
  22. ncbi request reprint Severe mucitis after sublingual administration of tetrahydrobiopterin in a patient with tetrahydrobiopterin-responsive phenylketonuria
    Thomas Opladen
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, 8032, Zurich, Switzerland
    Eur J Pediatr 164:395-6. 2005
  23. doi request reprint Pyridoxal phosphate-responsive seizures in a patient with cerebral folate deficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and microdontia (LAMM)
    Patricia Dill
    Division of Pediatric Neurology and Developmental Medicine, University Children s Hospital, Basel, Switzerland
    Mol Genet Metab 104:362-8. 2011
    ....
  24. ncbi request reprint Inactivity of nitric oxide synthase gene in the atherosclerotic human carotid artery
    Felix C Tanner
    Cardiovascular Research, Physiology Institute University of Zürich, Zurich, Switzerland
    Basic Res Cardiol 102:308-17. 2007
    ..We investigated whether NO release is enhanced after endothelial NO synthase (eNOS) gene transfer in atherosclerotic human carotid artery ex vivo...
  25. ncbi request reprint Analysis of 5-methyltetrahydrofolate in serum of healthy children
    Thomas Opladen
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital Zurich, Switzerland
    Mol Genet Metab 87:61-5. 2006
    ..0 nmol/L in newborns to 60.1 nmol/L in children older than 16 years. The method we describe is sensitive, selective, and reliable for the analysis of 5MTHF from 400 microL of serum...
  26. ncbi request reprint Long-term follow-up and adult outcome of 6-pyruvoyl-tetrahydropterin synthase deficiency
    Emmanuel Roze
    Department of Neurology, Saint Antoine Hospital, Paris, France, and Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    Mov Disord 21:263-6. 2006
    ..This report illustrates the role of dopamine modulation in motor, psychiatric, and endocrine functions...
  27. ncbi request reprint High frequency of tetrahydrobiopterin-responsiveness among hyperphenylalaninemias: a study of 1,919 patients observed from 1988 to 2002
    Caroline Bernegger
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Steinwiesstrasse 75, 8032 Zurich, Switzerland
    Mol Genet Metab 77:304-13. 2002
    ..Our data further demonstrate that BH(4) loading tests can only distinguish between BH(4) responders and non-responders. To differentiate between BH(4) and phenylalanine hydroxylase deficiencies additional tests are essential...
  28. ncbi request reprint Reduced nitric oxide metabolites in CSF of patients with tetrahydrobiopterin deficiency
    Giovanna Zorzi
    Division of Clinical Chemistry and Biochemistry, University Children s Hospital, Zurich, Switzerland
    J Neurochem 80:362-4. 2002
    ..5-5.0 mg/kg tetrahydrobiopterin. Our data indicate impaired NO synthase function in patients with BH4 deficiency and suggest possible involvement in the neuronal cell dysfunction...