S Kemp

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi request reprint Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
    Stephan Kemp
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands
    Mol Genet Metab 84:144-51. 2005
  2. pmc The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
    Rob Ofman
    Academic Medical Center, Departments of Pediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands
    EMBO Mol Med 2:90-7. 2010
  3. pmc Bezafibrate for X-linked adrenoleukodystrophy
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    PLoS ONE 7:e41013. 2012
  4. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012
  5. pmc Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
    Marc Engelen
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:1137-45. 2012
  6. doi request reprint X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
    Stephan Kemp
    Department of Clinical Chemistry, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1465-74. 2012
  7. ncbi request reprint X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Mol Genet Metab 90:268-76. 2007
  8. ncbi request reprint Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
    Stephan Kemp
    University of Amsterdam, Academic Medical Center, Department of Pediatrics Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, The Netherlands
    Clin Chem 50:1824-6. 2004
  9. doi request reprint Biochemical aspects of X-linked adrenoleukodystrophy
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Pediatrics Emma Children s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
    Brain Pathol 20:831-7. 2010
  10. ncbi request reprint ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
    S Kemp
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 18:499-515. 2001

Collaborators

Detail Information

Publications31

  1. ncbi request reprint Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophy
    Stephan Kemp
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, Netherlands
    Mol Genet Metab 84:144-51. 2005
    ..We also conclude that chain elongation offers an interesting target to be studied as a possible mode of treatment for X-ALD and other peroxisomal beta-oxidation disorders...
  2. pmc The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophy
    Rob Ofman
    Academic Medical Center, Departments of Pediatrics and Clinical Chemistry, University of Amsterdam, The Netherlands
    EMBO Mol Med 2:90-7. 2010
    ..Given the likely pathogenic effects of high C26:0 levels, our findings highlight the potential of modulating ELOVL1 activity in the treatment of X-ALD...
  3. pmc Bezafibrate for X-linked adrenoleukodystrophy
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    PLoS ONE 7:e41013. 2012
    ..BF appears to have no therapeutic utility in X-ALD. Trial registration: ClinicalTrials.gov NCT01165060...
  4. pmc X-linked adrenoleukodystrophy (X-ALD): clinical presentation and guidelines for diagnosis, follow-up and management
    Marc Engelen
    Department of Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Orphanet J Rare Dis 7:51. 2012
    ..This review focuses on the diagnosis and management of patients with X-ALD and provides a guideline for clinicians that encounter patients with this highly complex disorder...
  5. pmc Bezafibrate lowers very long-chain fatty acids in X-linked adrenoleukodystrophy fibroblasts by inhibiting fatty acid elongation
    Marc Engelen
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 35:1137-45. 2012
    ..Taken together, our data indicate bezafibrate as a potential pharmacotherapeutic treatment for X-ALD. A clinical trial is currently ongoing to evaluate the effect in patients with X-ALD...
  6. doi request reprint X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspects
    Stephan Kemp
    Department of Clinical Chemistry, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1465-74. 2012
    ..This review focuses on the clinical, biochemical, genetic and pathophysiological aspects of X-ALD...
  7. ncbi request reprint X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatment
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Mol Genet Metab 90:268-76. 2007
    ..This paper provides an overview of current knowledge and the problems that have been encountered...
  8. ncbi request reprint Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acid
    Stephan Kemp
    University of Amsterdam, Academic Medical Center, Department of Pediatrics Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, The Netherlands
    Clin Chem 50:1824-6. 2004
  9. doi request reprint Biochemical aspects of X-linked adrenoleukodystrophy
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Pediatrics Emma Children s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
    Brain Pathol 20:831-7. 2010
    ..Furthermore, we pay special attention to the role of the VLCFA elongation system in VLCFA homeostasis, with elongation of very long-chain fatty acids like-1 (ELOVL1) as key player, and its relevance to X-ALD...
  10. ncbi request reprint ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlations
    S Kemp
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 18:499-515. 2001
    ..Also, we present 47 novel mutations. In addition, we review the various X-ALD phenotypes, the different diagnostic tools, and the need for extended family screening for the identification of new patients...
  11. pmc Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significance
    Stephan Kemp
    Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Br J Pharmacol 164:1753-66. 2011
    ..This review describes the current state of knowledge on the mammalian peroxisomal ABC transporters with a particular focus on their function in metabolite transport...
  12. ncbi request reprint Two intronic mutations in the adrenoleukodystrophy gene
    S Kemp
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Hum Mutat 6:272-3. 1995
  13. ncbi request reprint Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)
    E A Janssen
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Hum Genet 99:501-5. 1997
    ..The nucleotide changes resulted in seven amino-acid substitutions and one premature stop codon...
  14. doi request reprint Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophy
    M Engelen
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Biochim Biophys Acta 1781:105-11. 2008
    ..Taken together, we conclude that cholesterol-deprivation reduces saturated VLCFA, but increases mono-unsaturated VLCFA. These data may have implications for treatment of X-ALD patients with lovastatin...
  15. ncbi request reprint The peroxisomal ABC transporter family
    Ronald J A Wanders
    Department of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Laboratory Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, Amsterdam, The Netherlands
    Pflugers Arch 453:719-34. 2007
    ..The availability of mutant mice in which Abcd1, Abcd2, or Abcd3 have been disrupted will help to resolve the true role of the peroxisomal half-ABC transporters...
  16. doi request reprint Peroxisomes, lipid metabolism and lipotoxicity
    R J A Wanders
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, and Department of Pediatrics, Emma Children s Hospital, Laboratory of Genetic Metabolic Diseases, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Biochim Biophys Acta 1801:272-80. 2010
    ....
  17. ncbi request reprint Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B
    T Kulkens
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Nat Genet 5:35-9. 1993
    ..The mutation results in the deletion of serine 34 in the extracellular domain of P0, suggesting that alterations of P0 cause CMT1B...
  18. ncbi request reprint No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriers
    R J Oostra
    Department of Clinical Genetics, Free University Hospital, Amsterdam, Netherlands
    Hum Genet 97:500-5. 1996
    ..We concluded that the results of our investigations do not support the hypothesis that LHON is a digenic disease with an X-linked factor being the main cause of loss of vision in the presence of relevant mtDNA mutations...
  19. ncbi request reprint Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophy
    Robert Jan Sanders
    Laboratory of Genetic Metabolic Diseases, University of Amsterdam, Academic Medical Center, 1105 AZ, Amsterdam, The Netherlands
    J Biol Chem 281:13180-7. 2006
    ....
  20. doi request reprint Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acids
    Robert Jan Sanders
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    FASEB J 22:2064-71. 2008
    ..Overall, our data demonstrate that in humans all enzymes are present for the complete conversion of VLCFAs to their corresponding very-long-chain dicarboxylic acids...
  21. ncbi request reprint Analysis of very long-chain fatty acids using electrospray ionization mass spectrometry
    Fredoen Valianpour
    Departments of Pediatrics Emma Children s Hospital and Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Meibergdreef 9, Amsterdam 1105 AZ, The Netherlands
    Mol Genet Metab 79:189-96. 2003
    ....
  22. ncbi request reprint Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutations
    S Kemp
    Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
    Biochem Biophys Res Commun 202:647-53. 1994
    ..The mutation was observed both in patients with childhood cerebral ALD (CCALD) and in patients with adrenomyeloneuropathy (AMN)...
  23. ncbi request reprint Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomes
    Robert Jan Sanders
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital, 1105 AZ Amsterdam, The Netherlands
    J Lipid Res 46:1001-8. 2005
    ....
  24. pmc Histone deacetylases (HDACs): characterization of the classical HDAC family
    Annemieke J M de Ruijter
    Academic Medical Centre, University of Amsterdam, Amsterdam, The, Netherlands
    Biochem J 370:737-49. 2003
    ..This challenging field has generated many fascinating results which will ultimately lead to a better understanding of the mechanism of gene transcription as a whole...
  25. doi request reprint Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophy
    Stephane Fourcade
    Centre de Genètica Mèdica i Molecular, Institut d Investigació Biomèdica de Bellvitge IDIBELL, Hospitalet de Llobregat, Barcelona, Spain
    Hum Mol Genet 17:1762-73. 2008
    ..These results pave the way for the identification of therapeutic targets that could reverse the deregulated response to oxidative stress in X-ALD...
  26. ncbi request reprint Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiency
    Iris Oezen
    Center for Brain Research, Medical University Vienna, Vienna, Austria
    Hum Mol Genet 14:1127-37. 2005
    ..Thus, we conclude that the accumulation of VLCFA per se does not cause mitochondrial abnormalities and vice versa-mitochondrial abnormalities are not responsible for the accumulation of VLCFA in X-ALD mice...
  27. ncbi request reprint A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy
    Ann K Heinzer
    The Kennedy Krieger Institute, Baltimore, MD 21205, USA
    Hum Mol Genet 12:1145-54. 2003
    ....
  28. ncbi request reprint Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophy
    Ann K Heinzer
    Kennedy Krieger Institute, The Department of Pediatrics, The Johns Hopkins University, Baltimore, Maryland 21205, USA
    J Biol Chem 277:28765-73. 2002
    ..These observations imply that ALDP is not necessary for the proper expression or localization of Vlcs protein, and the control of VLCFA levels does not depend on the direct interaction of Vlcs and ALDP...
  29. ncbi request reprint Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damage
    Isidre Ferrer
    Institut de Neuropatologia, Hospital Universitari de Bellvitge, Department de Biologia Cel lular i Anatomia Patologica, Facultat de Medicina, Universitat de Barcelona, Spain
    Hum Mol Genet 14:3565-77. 2005
    ..We have identified mitochondrial, Golgi and endoplasmic reticulum damage as the underlying pathological mechanism, thus providing evidence of a disturbed organelle cross-talk, which may be at the origin of the pathological cascade...
  30. ncbi request reprint The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophy
    Michael Linnebank
    University Hospital Bonn, Department of Neurology, Bonn, Germany
    Hum Mutat 27:1063-4. 2006
    ..Since methionine metabolism can easily be influenced by vitamin and amino acid substitution, this observation could be a basis of novel treatment strategies in this yet untreatable disease. (c) 2006 Wiley-Liss, Inc...
  31. ncbi request reprint A novel cell model to study the function of the adrenoleukodystrophy-related protein
    Fabien Gueugnon
    Laboratoire de Biologie Moleculaire et Cellulaire, Faculte des Sciences Gabriel, Dijon, France
    Biochem Biophys Res Commun 341:150-7. 2006
    ..The obtained cell lines will be an indispensable tool in our further studies aimed at the resolution of the function of ALDRP to characterize its potential substrates in a natural context...