Research Topics
| S KempSummaryAffiliation: Academic Medical Center Country: The Netherlands Publications
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Publications
X-linked adrenoleukodystrophy: clinical, metabolic, genetic and pathophysiological aspectsStephan 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...
X-linked adrenoleukodystrophy: very long-chain fatty acid metabolism, ABC half-transporters and the complicated route to treatmentStephan 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...- Elongation of very long-chain fatty acids is enhanced in X-linked adrenoleukodystrophyStephan 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... - ABCD1 mutations and the X-linked adrenoleukodystrophy mutation database: role in diagnosis and clinical correlationsS 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... - Biochemical aspects of X-linked adrenoleukodystrophyStephan 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... - Method for measurement of peroxisomal very-long-chain fatty acid beta-oxidation in human skin fibroblasts using stable-isotope-labeled tetracosanoic acidStephan 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 
Mammalian peroxisomal ABC transporters: from endogenous substrates to pathology and clinical significanceStephan 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...- Two intronic mutations in the adrenoleukodystrophy geneS Kemp
Department of Neurology, Academic Medical Center, Amsterdam, The Netherlands
Hum Mutat 6:272-3. 1995 - 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... - Cholesterol-deprivation increases mono-unsaturated very long-chain fatty acids in skin fibroblasts from patients with X-linked adrenoleukodystrophyM 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... - The peroxisomal ABC transporter familyRonald 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... - Peroxisomes, lipid metabolism and lipotoxicityR 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.... - Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1BT 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... - No evidence for 'skewed' inactivation of the X-chromosome as cause of Leber's hereditary optic neuropathy in female carriersR 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... - The role of ELOVL1 in very long-chain fatty acid homeostasis and X-linked adrenoleukodystrophyRob 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... - Characterization of the human omega-oxidation pathway for omega-hydroxy-very-long-chain fatty acidsRobert 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... - Omega-oxidation of very long-chain fatty acids in human liver microsomes. Implications for X-linked adrenoleukodystrophyRobert-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.... - Analysis of very long-chain fatty acids using electrospray ionization mass spectrometryFredoen 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.... - Identification of a two base pair deletion in five unrelated families with adrenoleukodystrophy: a possible hot spot for mutationsS 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)... - Evidence for two enzymatic pathways for omega-oxidation of docosanoic acid in rat liver microsomesRobert-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.... - Histone deacetylases (HDACs): characterization of the classical HDAC familyAnnemieke 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... - Mouse very long-chain acyl-CoA synthetase in X-linked adrenoleukodystrophyAnn 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... - Early oxidative damage underlying neurodegeneration in X-adrenoleukodystrophyStephane 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... - Accumulation of very long-chain fatty acids does not affect mitochondrial function in adrenoleukodystrophy protein deficiencyIris 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... - A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophyAnn K Heinzer
The Kennedy Krieger Institute, Baltimore, MD 21205, USA
Hum Mol Genet 12:1145-54. 2003.... - The cystathionine beta-synthase variant c.844_845ins68 protects against CNS demyelination in X-linked adrenoleukodystrophyMichael 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... - A novel cell model to study the function of the adrenoleukodystrophy-related proteinFabien 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... - Inactivation of the peroxisomal ABCD2 transporter in the mouse leads to late-onset ataxia involving mitochondria, Golgi and endoplasmic reticulum damageIsidre 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...