Frederic M Vaz

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. pmc Carnitine biosynthesis in mammals
    Frederic M Vaz
    Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem J 361:417-29. 2002
  2. ncbi request reprint Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry
    Frederic M Vaz
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Clin Chem 48:826-34. 2002
  3. ncbi request reprint Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
    Frederic M Vaz
    Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Biol Chem 278:43089-94. 2003
  4. ncbi request reprint Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
    Fredoen Valianpour
    Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 46:1182-95. 2005
  5. doi request reprint Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
    Riekelt H Houtkooper
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Anal Biochem 387:230-7. 2009
  6. ncbi request reprint X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
    Peter G Barth
    Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 126:349-54. 2004
  7. doi request reprint The enigmatic role of tafazzin in cardiolipin metabolism
    Riekelt H Houtkooper
    University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1788:2003-14. 2009
  8. pmc Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem J 387:185-93. 2005
  9. doi request reprint Enzymology of the carnitine biosynthesis pathway
    Karin Strijbis
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    IUBMB Life 62:357-62. 2010
  10. ncbi request reprint Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome
    Willem Kulik
    Department of Clinical Chemistry, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Clin Chem 54:371-8. 2008

Collaborators

Detail Information

Publications25

  1. pmc Carnitine biosynthesis in mammals
    Frederic M Vaz
    Laboratory for Genetic Metabolic Diseases, Departments of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem J 361:417-29. 2002
    ..This review aims to cover the current knowledge of the enzymological, molecular, metabolic and regulatory aspects of mammalian carnitine biosynthesis, with an emphasis on the human and rat...
  2. ncbi request reprint Analysis of carnitine biosynthesis metabolites in urine by HPLC-electrospray tandem mass spectrometry
    Frederic M Vaz
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Clin Chem 48:826-34. 2002
    ..In addition, we investigated whether newborns are capable of carnitine synthesis from deuterium-labeled N(6)-trimethyllysine...
  3. ncbi request reprint Only one splice variant of the human TAZ gene encodes a functional protein with a role in cardiolipin metabolism
    Frederic M Vaz
    Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Biol Chem 278:43089-94. 2003
    ..We conclude that this splice variant most likely represents the only physiologically important mRNA, at least with regard to cardiolipin metabolism...
  4. ncbi request reprint Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis
    Fredoen Valianpour
    Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 46:1182-95. 2005
    ....
  5. doi request reprint Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography-mass spectrometry as a diagnostic test for Barth syndrome
    Riekelt H Houtkooper
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Anal Biochem 387:230-7. 2009
    ....
  6. ncbi request reprint X-linked cardioskeletal myopathy and neutropenia (Barth syndrome): an update
    Peter G Barth
    Department of Pediatric Neurology, Emma Children s Hospital AMC, University of Amsterdam, Amsterdam, The Netherlands
    Am J Med Genet A 126:349-54. 2004
    ..The apex of the survival curve around puberty and the emergence of adults may reflect a dynamic shift towards increased survival. This trend is exemplified in a large pedigree previously published...
  7. doi request reprint The enigmatic role of tafazzin in cardiolipin metabolism
    Riekelt H Houtkooper
    University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1788:2003-14. 2009
    ..Transient expression of selected human tafazzin variants in BTHS fibroblasts showed for the first time in a human cell system that tafazzin lacking exon5 indeed functions in cardiolipin remodeling...
  8. pmc Characterization of carnitine and fatty acid metabolism in the long-chain acyl-CoA dehydrogenase-deficient mouse
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem J 387:185-93. 2005
    ....
  9. doi request reprint Enzymology of the carnitine biosynthesis pathway
    Karin Strijbis
    Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    IUBMB Life 62:357-62. 2010
    ..This review discusses the current knowledge on carnitine homeostasis with special emphasis on the enzymology of the four steps of the carnitine biosynthesis pathway...
  10. ncbi request reprint Bloodspot assay using HPLC-tandem mass spectrometry for detection of Barth syndrome
    Willem Kulik
    Department of Clinical Chemistry, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Clin Chem 54:371-8. 2008
    ..Because early diagnosis and appropriate treatment are of key importance for the survival of affected boys, we developed a biochemical BTHS screening method based on analysis of the monolysocardiolipin:cardiolipin ratio in bloodspots...
  11. ncbi request reprint Measurement of carnitine biosynthesis enzyme activities by tandem mass spectrometry: differences between the mouse and the rat
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Anal Biochem 354:132-9. 2006
    ..Also, muscle carnitine levels were found to vary considerably between these two species, suggesting that there is a metabolic dissimilarity between the mouse and the rat...
  12. pmc Zellweger spectrum disorders: clinical manifestations in patients surviving into adulthood
    Kevin Berendse
    Department of Paediatric Neurology, Emma Children s Hospital, Academic Medical Centre AMC, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 39:93-106. 2016
    ..We describe the natural history of patients with a Zellweger spectrum disorder (ZSD) surviving into adulthood...
  13. doi request reprint Identification and characterization of a complete carnitine biosynthesis pathway in Candida albicans
    Karin Strijbis
    Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    FASEB J 23:2349-59. 2009
    ..In conclusion, we have genetically characterized a complete carnitine biosynthesis pathway in C. albicans and show that a TA family member is mainly involved in the aldolytic cleavage of hydroxytrimethyllysine in vivo...
  14. ncbi request reprint Submitochondrial localization of 6-N-trimethyllysine dioxygenase - implications for carnitine biosynthesis
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    FEBS J 274:5845-51. 2007
    ..This transport system represents an additional step in carnitine biosynthesis that could have considerable implications for the regulation of carnitine biosynthesis...
  15. ncbi request reprint Identification and characterization of human cardiolipin synthase
    Riekelt H Houtkooper
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 580:3059-64. 2006
    ..The possible implications for CL synthesis and remodeling are discussed...
  16. pmc Cholic acid therapy in Zellweger spectrum disorders
    Kevin Berendse
    Department of Pediatric Neurology, Emma Children s Hospital Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 39:859-868. 2016
    ..We investigated whether cholic acid supplementation can suppress bile acid synthesis, reduce accumulation of toxic bile acid intermediates and improve liver function in these patients...
  17. ncbi request reprint PPAR alpha-activation results in enhanced carnitine biosynthesis and OCTN2-mediated hepatic carnitine accumulation
    Naomi van Vlies
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1767:1134-42. 2007
    ....
  18. pmc The important role of biochemical and functional studies in the diagnostics of peroxisomal disorders
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    J Inherit Metab Dis 39:531-43. 2016
    ..Several examples are shown to underline the power of such studies. ..
  19. pmc Delineating the role of alterations in lipid metabolism to the pathogenesis of inherited skeletal and cardiac muscle disorders: Thematic Review Series: Genetics of Human Lipid Diseases
    Harjot K Saini-Chohan
    Department of Pharmacology and Therapeutics, Academic Medical Center, Amsterdam, The Netherlands
    J Lipid Res 53:4-27. 2012
    ..Information on lipid alterations occurring in these myopathies will aid in the design of improved methods of screening and therapy in children and young adults with or without a family history of genetic diseases...
  20. doi request reprint The impact of altered carnitine availability on acylcarnitine metabolism, energy expenditure and glucose tolerance in diet-induced obese mice
    Marieke G Schooneman
    Department of Endocrinology and Metabolism, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1862:1375-82. 2016
    ..We hypothesized that increasing free carnitine levels by administration of the carnitine precursor γ-butyrobetaine (γBB) could facilitate FAO, thereby improving insulin sensitivity...
  21. pmc C26:0-Carnitine Is a New Biomarker for X-Linked Adrenoleukodystrophy in Mice and Man
    Malu Clair van de Beek
    Laboratory Genetic Metabolic Diseases, Departments of Pediatrics and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    PLoS ONE 11:e0154597. 2016
    ..We anticipate that validation of C26:0-carnitine for the diagnosis of ALD in newborn bloodspots may lead to a faster inclusion of ALD in newborn screening programs in countries that already screen for other inborn errors of metabolism. ..
  22. pmc Clinical and biochemical characterization of four patients with mutations in ECHS1
    Sacha Ferdinandusse
    Departments of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, AZ, 1105, The Netherlands
    Orphanet J Rare Dis 10:79. 2015
    ..We investigated the role of SCEH in fatty acid and branched-chain amino acid metabolism in four newly identified patients. In addition, because of the Leigh-like presentation, we studied enzymes involved in bioenergetics...
  23. ncbi request reprint An improved enzyme assay for carnitine palmitoyl transferase I in fibroblasts using tandem mass spectrometry
    Naomi van Vlies
    Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases F0 224, Academic Medical Center, University of Amsterdam, PO Box 22700, 1100 DE Amsterdam, The Netherlands
    Mol Genet Metab 90:24-9. 2007
    ..This inhibition is essential for correct calculation of CPTI activity. In fibroblasts of CPTI-deficient patients, CPTI activity was not detectable and this assay can be used for the diagnosis of CPTI-deficiency...
  24. doi request reprint Sodium taurocholate cotransporting polypeptide (SLC10A1) deficiency: conjugated hypercholanemia without a clear clinical phenotype
    Frederic M Vaz
    Laboratory Genetic Metabolic Disease, Academic Medical Center, Amsterdam, The Netherlands
    Hepatology 61:260-7. 2015
    ..Immunofluorescence studies and surface biotinylation experiments demonstrated that the mutant protein is virtually absent from the plasma membrane...
  25. doi request reprint Principles and practice of lipidomics
    Frederic M Vaz
    Laboratory Genetic Metabolic Disease F0 224, Departments of Clinical Chemistry and Pediatrics, University of Amsterdam, Academic Medical Center AMC, Amsterdam, 1105 AZ, The Netherlands
    J Inherit Metab Dis 38:41-52. 2015
    ..This review provides a first introduction to the major methodological strategies currently used for mass spectrometry-based lipidomics and associated data pre-processing and analysis. ..