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. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Collaborators

  • Ronald J A Wanders
  • Willem Kulik
  • Colin G Steward
  • Ben Distel
  • Judit Bene
  • Grant M Hatch
  • Sacha Ferdinandusse
  • Bela Melegh
  • Naomi van Vlies
  • Riekelt H Houtkooper
  • Karin Strijbis
  • Harjot K Saini-Chohan
  • Bwee Tien Poll-The
  • Marjolein Turkenburg
  • Henk van Lenthe
  • Peter G Barth
  • Teresa Zelinski
  • Ryan W Mitchell
  • Celia Perez-Cerda
  • Femke Stet
  • Daniela Karall
  • Karien Bloem
  • Jolanda de Haan
  • Carlo W T van Roermund
  • Sabrina Malvagia
  • Amelia Morrone
  • Jan Smeitink
  • Richard J Rodenburg
  • Guy P Hardy
  • Janet E Stone
  • Janny van den Burg
  • Charlotte Thiels
  • Jos P N Ruiter
  • Rob Ofman
  • Mirjam Doolaard
  • Margrit Frentzen
  • Hana Akbari
  • Jan Lam
  • Valerie M Bowen
  • Fredoen Valianpour
  • Marinus Duran

Detail Information

Publications14

  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. 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
    ....
  5. 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...
  6. 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...
  7. 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...
  8. 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...
  9. 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...
  10. 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...
  11. 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...
  12. 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
    ....
  13. 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...
  14. 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...