R J Wanders

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi Disorders of mitochondrial fatty acyl-CoA beta-oxidation
    R J Wanders
    Academic Medical Center, University of Amsterdam, The Netherlands
    J Inherit Metab Dis 22:442-87. 1999
  2. ncbi Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
    R J Wanders
    University of Amsterdam, Academic Medical Centre, Departments of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem Soc Trans 29:250-67. 2001
  3. ncbi 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation
    R J Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1393:35-40. 1998
  4. ncbi Peroxisomal disorders: clinical, biochemical, and molecular aspects
    R J Wanders
    University of Amsterdam, Academic Medical Centre, Dept Pediatrics, Emma Children s Hospital and Clinical Biochemistry, The Netherlands
    Neurochem Res 24:565-80. 1999
  5. ncbi Peroxisomes, lipid metabolism, and human disease
    R J Wanders
    University of Amsterdam, Academic Medical Center, Department of Pediatrics, Emma Children s Hospital and Clinical Biochemistry, Meibergdreef 9 Room F0 224, 1105 AZ Amsterdam, The Netherlands
    Cell Biochem Biophys 32:89-106. 2000
  6. ncbi Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes
    R J Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, The Netherlands
    Biochem Biophys Res Commun 236:565-9. 1997
  7. ncbi Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis
    R J Wanders
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, The Netherlands
    Biochem Biophys Res Commun 247:663-7. 1998
  8. pmc Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae
    C W van Roermund
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, 1100 DE Amsterdam, The Netherlands
    Mol Cell Biol 21:4321-9. 2001
  9. ncbi Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation
    G A Jansen
    Department of Pediatrics Emma Children s Hospital, University of Amsterdam, Academic Medical Centre, The Netherlands
    J Lipid Res 40:2244-54. 1999
  10. pmc Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p
    C W van Roermund
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, The Netherlands
    EMBO J 18:5843-52. 1999

Detail Information

Publications96

  1. ncbi Disorders of mitochondrial fatty acyl-CoA beta-oxidation
    R J Wanders
    Academic Medical Center, University of Amsterdam, The Netherlands
    J Inherit Metab Dis 22:442-87. 1999
    ..In addition, a simple flowchart is presented as a guide to the identification of mitochondrial FAO-disorders. Finally, treatment strategies are discussed briefly...
  2. ncbi Peroxisomal fatty acid alpha- and beta-oxidation in humans: enzymology, peroxisomal metabolite transporters and peroxisomal diseases
    R J Wanders
    University of Amsterdam, Academic Medical Centre, Departments of Clinical Chemistry and Paediatrics, Emma Children s Hospital, Laboratory for Genetic Metabolic Diseases, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochem Soc Trans 29:250-67. 2001
    ....
  3. ncbi 2,6-Dimethylheptanoyl-CoA is a specific substrate for long-chain acyl-CoA dehydrogenase (LCAD): evidence for a major role of LCAD in branched-chain fatty acid oxidation
    R J Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    Biochim Biophys Acta 1393:35-40. 1998
    ....
  4. ncbi Peroxisomal disorders: clinical, biochemical, and molecular aspects
    R J Wanders
    University of Amsterdam, Academic Medical Centre, Dept Pediatrics, Emma Children s Hospital and Clinical Biochemistry, The Netherlands
    Neurochem Res 24:565-80. 1999
    ..In this paper we will provide an overview of the peroxisomal disorders with particular emphasis on their clinical, biochemical and molecular characteristics...
  5. ncbi Peroxisomes, lipid metabolism, and human disease
    R J Wanders
    University of Amsterdam, Academic Medical Center, Department of Pediatrics, Emma Children s Hospital and Clinical Biochemistry, Meibergdreef 9 Room F0 224, 1105 AZ Amsterdam, The Netherlands
    Cell Biochem Biophys 32:89-106. 2000
    ..This article describes the current state of knowledge concerning the role of peroxisomes in these processes, especially in relation to various peroxisomal disorders in which there is an impairment in peroxisomal lipid metabolism...
  6. ncbi Sterol carrier protein X (SCPx) is a peroxisomal branched-chain beta-ketothiolase specifically reacting with 3-oxo-pristanoyl-CoA: a new, unique role for SCPx in branched-chain fatty acid metabolism in peroxisomes
    R J Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, The Netherlands
    Biochem Biophys Res Commun 236:565-9. 1997
    ....
  7. ncbi Differential deficiency of mevalonate kinase and phosphomevalonate kinase in patients with distinct defects in peroxisome biogenesis: evidence for a major role of peroxisomes in cholesterol biosynthesis
    R J Wanders
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, The Netherlands
    Biochem Biophys Res Commun 247:663-7. 1998
    ..Taken together, our data indicate that in human liver mevalonate kinase and phosphomevalonate kinase are truly peroxisomal enzymes which strongly suggests that peroxisomes play a major role in cholesterol biosynthesis...
  8. pmc Identification of a peroxisomal ATP carrier required for medium-chain fatty acid beta-oxidation and normal peroxisome proliferation in Saccharomyces cerevisiae
    C W van Roermund
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, 1100 DE Amsterdam, The Netherlands
    Mol Cell Biol 21:4321-9. 2001
    ..We conclude that YPR128cp most likely mediates the transport of ATP across the peroxisomal membrane...
  9. ncbi Phytanoyl-CoA hydroxylase from rat liver. Protein purification and cDNA cloning with implications for the subcellular localization of phytanic acid alpha-oxidation
    G A Jansen
    Department of Pediatrics Emma Children s Hospital, University of Amsterdam, Academic Medical Centre, The Netherlands
    J Lipid Res 40:2244-54. 1999
    ..The finding that PhyH is peroxisomal in both rat and humans provides strong evidence against the concept of a differential subcellular localization of phytanic acid alpha-oxidation in rat and human...
  10. pmc Molecular characterization of carnitine-dependent transport of acetyl-CoA from peroxisomes to mitochondria in Saccharomyces cerevisiae and identification of a plasma membrane carnitine transporter, Agp2p
    C W van Roermund
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children s Hospital, The Netherlands
    EMBO J 18:5843-52. 1999
    ....
  11. ncbi Novel mutations in the 7-dehydrocholesterol reductase gene of 13 patients with Smith--Lemli--Opitz syndrome
    P E Jira
    Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
    Ann Hum Genet 65:229-36. 2001
    ..Seven patients with a mild to moderate SLOS-phenotype disclosed compound heterozygosity of the IVS8--1 G > C mutation in combination with different novel and known missense mutations...
  12. ncbi Phytanoyl-CoA hydroxylase deficiency. Enzymological and molecular basis of classical Refsum disease
    G A Jansen
    University of Amsterdam, Dept Pediatrics, The Netherlands
    Adv Exp Med Biol 466:371-6. 1999
  13. ncbi Transport of activated fatty acids by the peroxisomal ATP-binding-cassette transporter Pxa2 in a semi-intact yeast cell system
    N Verleur
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, The Netherlands
    Eur J Biochem 249:657-61. 1997
    ..The results obtained may contribute to the elucidation of the primary defect in the human disease X-linked adrenoleukodystrophy...
  14. pmc Mutations in the 3beta-hydroxysterol Delta24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
    H R Waterham
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Am J Hum Genet 69:685-94. 2001
    ..Our data demonstrate that desmosterolosis is a cholesterol-biosynthesis disorder caused by mutations in DHCR24...
  15. ncbi Molecular cloning and expression of human carnitine octanoyltransferase: evidence for its role in the peroxisomal beta-oxidation of branched-chain fatty acids
    S Ferdinandusse
    Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands
    Biochem Biophys Res Commun 263:213-8. 1999
    ..Our results shed new light on the function of COT in fatty acid metabolism and point to a crucial role of COT in the beta-oxidation of branched-chain fatty acids...
  16. ncbi Identification of the peroxisomal beta-oxidation enzymes involved in the biosynthesis of docosahexaenoic acid
    S Ferdinandusse
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Lipid Res 42:1987-95. 2001
    ..These findings are of importance for the treatment of patients with a defect in peroxisomal beta-oxidation...
  17. pmc Peroxisomal bifunctional protein deficiency revisited: resolution of its true enzymatic and molecular basis
    E G van Grunsven
    Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, University of Amsterdam, The Netherlands
    Am J Hum Genet 64:99-107. 1999
    ..We tested this hypothesis in nine patients whose condition was diagnosed as l-BP deficiency on the basis of complementation analysis and found clear-cut mutations in the d-BP cDNA from all patients...
  18. ncbi Functional analysis of mutant human carnitine acylcarnitine translocases in yeast
    L Ijlst
    Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Biochem Biophys Res Commun 280:700-6. 2001
    ..Expression in this strain revealed significant residual activity for CACT(+21aa), while the CACT(G81R) was inactive...
  19. ncbi Identification and characterization of three novel missense mutations in mevalonate kinase cDNA causing mevalonic aciduria, a disorder of isoprene biosynthesis
    S M Houten
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mol Genet 8:1523-8. 1999
    ..These results demonstrate that the mutations affect not only the activity but also the stability of the mutant proteins...
  20. pmc Pex11p plays a primary role in medium-chain fatty acid oxidation, a process that affects peroxisome number and size in Saccharomyces cerevisiae
    C W van Roermund
    Department of Clinical Chemistry, Emma Children s Hospital, University of Amsterdam, Academic Medical Center, 1105 AZ Amsterdam, The Netherlands
    J Cell Biol 150:489-98. 2000
    ..Our observations suggest that the MCFA oxidation pathway regulates the level of a signaling molecule that modulates the number of peroxisomal structures in a cell...
  21. ncbi Human phytanoyl-CoA hydroxylase: resolution of the gene structure and the molecular basis of Refsum's disease
    G A Jansen
    Department of Pediatrics, Emma Children s Hospital, University of Amsterdam, Academic Medical Centre, Amsterdam, The Netherlands
    Hum Mol Genet 9:1195-200. 2000
    ..The results showed that all these mutations lead to an enzymatically inactive PhyH protein...
  22. ncbi Enoyl-CoA hydratase deficiency: identification of a new type of D-bifunctional protein deficiency
    E G van Grunsven
    Department of Pediatrics, University of Amsterdam, Academic Medical Center, The Netherlands
    Hum Mol Genet 8:1509-16. 1999
    ....
  23. ncbi Non-rhizomelic and rhizomelic chondrodysplasia punctata within a single complementation group
    A M Motley
    Department of Biochemistry, E C Slater Institute, Academic Medical Center, Amsterdam, The Netherlands
    Biochim Biophys Acta 1315:153-8. 1996
    ..We conclude that defects in a single gene can give rise to both clinical phenotypes...
  24. ncbi Molecular and Biochemical Characterization of Rat epsilon -N-Trimethyllysine Hydroxylase, the First Enzyme of Carnitine Biosynthesis
    F M Vaz
    Laboratory for Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, Amsterdam 1100 DE, The Netherlands
    J Biol Chem 276:33512-7. 2001
    ..Both gel filtration and blue native polyacrylamide gel electrophoresis analysis showed that the native enzyme has a mass of approximately 87 kDa, indicating that in rat epsilon-N-trimethyllysine hydroxylase is a homodimer...
  25. ncbi Refsum disease is caused by mutations in the phytanoyl-CoA hydroxylase gene
    G A Jansen
    Department of Clinical Biochemistry, University of Amsterdam, The Netherlands
    Nat Genet 17:190-3. 1997
    ..This analysis confirms our finding that Refsum disease is caused by a deficiency of PhyH...
  26. ncbi Organization of the mevalonate kinase (MVK) gene and identification of novel mutations causing mevalonic aciduria and hyperimmunoglobulinaemia D and periodic fever syndrome
    S M Houten
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Eur J Hum Genet 9:253-9. 2001
    ....
  27. ncbi Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy
    S Ferdinandusse
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Nat Genet 24:188-91. 2000
    ..Our findings have implications for the diagnosis of adult-onset neuropathies of unknown aetiology...
  28. ncbi Subcellular localization and physiological role of alpha-methylacyl-CoA racemase
    S Ferdinandusse
    Departments of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Lipid Res 41:1890-6. 2000
    ....
  29. pmc Rhizomelic chondrodysplasia punctata. Deficiency of 3-oxoacyl-coenzyme A thiolase in peroxisomes and impaired processing of the enzyme
    J C Heikoop
    E C Slater Institute for Biochemical Research, University of Amsterdam, The Netherlands
    J Clin Invest 86:126-30. 1990
    ..However, the capacity of the peroxisomes to oxidize very-long-chain fatty acids must be sufficient to prevent excessive accumulation of these compounds in vivo...
  30. ncbi Differential effect of valproate and its Delta2- and Delta4-unsaturated metabolites, on the beta-oxidation rate of long-chain and medium-chain fatty acids
    M F Silva
    Department of Clinical Chemistry and Paediatrics, University of Amsterdam, Academic Medical Centre, 1105 AZ, Amsterdam, Netherlands
    Chem Biol Interact 137:203-12. 2001
    ..The second mechanism is more specific in nature and involves selective inhibition of particular enzymes implicated in fatty acid beta-oxidation...
  31. ncbi Valproate induces in vitro accumulation of long-chain fatty acylcarnitines
    M F Silva
    Department of Clinical Chemistry and Paediatrics, University of Amsterdam, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 73:358-61. 2001
    ..Acylcarnitines (AC) were analyzed by GC-CI-MS. VPA induced an impaired production of acetylcarnitine (C2) and an increase on long-chain AC (C10 to C16) both in control and in FAO-deficient cell lines (VLCAD, LCHAD, MTP)...
  32. ncbi Identification of pristanal dehydrogenase activity in peroxisomes: conclusive evidence that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes
    G A Jansen
    Department of Clinical Chemistry, Department of Pediatrics, University of Amsterdam, Academic Medical Centre, Emma Children's Hospital, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands
    Biochem Biophys Res Commun 283:674-9. 2001
    ..Using subcellular localization studies, we now show that peroxisomes contain pristanal dehydrogenase activity which leads us to conclude that the complete phytanic acid alpha-oxidation pathway is localized in peroxisomes...
  33. pmc Molecular basis of hepatic carnitine palmitoyltransferase I deficiency
    L Ijlst
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Center, 1100 DE Amsterdam, The Netherlands
    J Clin Invest 102:527-31. 1998
    ..Furthermore, in patient's fibroblasts the CPT IA protein was markedly reduced on immunoblot, suggesting that the mutation renders the protein unstable...
  34. ncbi Peroxisomal fatty acid oxidation disorders and 58 kDa sterol carrier protein X (SCPx). Activity measurements in liver and fibroblasts using a newly developed method
    S Ferdinandusse
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 41:336-42. 2000
    ..Furthermore, in all patients studied with a defect in peroxisomal beta-oxidation of unknown origin, SCPx was found to be normally active, indicating that human SCPx deficiency remains to be identified...
  35. ncbi Biochemical and genetic aspects of mevalonate kinase and its deficiency
    S M Houten
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE, Amsterdam, The Netherlands
    Biochim Biophys Acta 1529:19-32. 2000
    ..Here we review the biochemical and molecular properties of MK, and discuss its biological significance, the regulation of its enzyme activity and finally its subcellular localization...
  36. pmc Smith-Lemli-Opitz syndrome is caused by mutations in the 7-dehydrocholesterol reductase gene
    H R Waterham
    Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    Am J Hum Genet 63:329-38. 1998
    ..Our data demonstrate that Smith-Lemli-Opitz syndrome is caused by mutations in the gene coding for 7-dehydrocholesterol reductase...
  37. ncbi Molecular and biochemical characterization of rat gamma-trimethylaminobutyraldehyde dehydrogenase and evidence for the involvement of human aldehyde dehydrogenase 9 in carnitine biosynthesis
    F M Vaz
    Laboratory for Genetic Metabolic Diseases, 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 275:7390-4. 2000
    ..This indicates that human aldehyde dehydrogenase 9 is the gamma-trimethylaminobutyraldehyde dehydrogenase, which functions in carnitine biosynthesis...
  38. ncbi Phytanoyl-CoA hydroxylase is not only deficient in classical Refsum disease but also in rhizomelic chondrodysplasia punctata
    G A Jansen
    University of Amsterdam, Department of Clinical Biochemistry, The Netherlands
    J Inherit Metab Dis 20:444-6. 1997
  39. ncbi Characterization of phytanoyl-Coenzyme A hydroxylase in human liver and activity measurements in patients with peroxisomal disorders
    G A Jansen
    Academic Medical Center, University of Amsterdam, Department of Clinical Biochemistry, The Netherlands
    Clin Chim Acta 271:203-11. 1998
    ....
  40. ncbi Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency
    S Ferdinandusse
    Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Lipid Res 42:137-41. 2001
    ..H. Overmars, S. Denis, H. R. Waterham, R. J. A. Wanders, and P. Vreken. Plasma analysis of di- and trihydroxycholestanoic acid diastereoisomers in peroxisomal alpha-methylacyl-CoA racemase deficiency. J. Lipid Res. 2001. 42: 137;-141...
  41. ncbi Defective remodeling of cardiolipin and phosphatidylglycerol in Barth syndrome
    P Vreken
    Department of Clinical Chemistry, Academic Medical Center, Amsterdam, 1100 DE, The Netherlands
    Biochem Biophys Res Commun 279:378-82. 2000
    ..These results imply that the G4.5 gene product, which is mutated in Barth syndrome patients, is specifically involved in the remodeling of PG and CL and for the first time identify an essential factor in this important cellular process...
  42. ncbi Studies on the effect of fenoprofen on the activation and oxidation of long chain and very long chain fatty acids in hepatocytes and subcellular fractions from rat liver
    W Lageweg
    Department of Clinical Biochemistry, University of Amsterdam, The Netherlands
    Biochem Pharmacol 46:79-85. 1993
    ..This finding provides an explanation for the inhibitory effect of fenoprofen on lignocerate and cerotate beta-oxidation in hepatocytes...
  43. ncbi Clinical recognition of patients affected by a peroxisomal disorder: a retrospective study in 40 patients
    A C Theil
    Department of Paediatrics, University of Amsterdam, The Netherlands
    Eur J Pediatr 151:117-20. 1992
    ..Further prospective investigations will have to be done to evaluate these criteria...
  44. pmc Peroxisomal D-hydroxyacyl-CoA dehydrogenase deficiency: resolution of the enzyme defect and its molecular basis in bifunctional protein deficiency
    E G van Grunsven
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Laboratory of Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Proc Natl Acad Sci U S A 95:2128-33. 1998
    ..The results show that the newly identified D-bifunctional protein plays an essential role in the peroxisomal beta-oxidation pathway that cannot be compensated for by the L-specific bifunctional protein...
  45. ncbi Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
    P G Barth
    Department of Pediatrics, Emma Children s Hospital AMC, University of Amsterdam, The Netherlands
    Neuromuscul Disord 8:296-304. 1998
    ..The findings support a new progressive autosomal recessive infantile cardioskeletal myopathy in which type I muscle fibres are preferentially affected...
  46. ncbi Biochemical and genetic aspects of 7-dehydrocholesterol reductase and Smith-Lemli-Opitz syndrome
    H R Waterham
    Laboratory for Genetic Metabolic Diseases F0 224, Department of Paediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE, Amsterdam, The Netherlands
    Biochim Biophys Acta 1529:340-56. 2000
    ..3.1.21). This enzyme catalyzes the final step in cholesterol biosynthesis, which is the reduction of the Delta(7) double bond of 7-dehydrocholesterol to produce cholesterol...
  47. ncbi Identification of two novel mutations in OCTN2 of three patients with systemic carnitine deficiency
    F M Vaz
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Genet 105:157-61. 1999
    ..Reintroduction of wild-type OCTN2 cDNA into fibroblasts of the three patients by transient transfection restored the cellular carnitine uptake, confirming that mutations in OCTN2 are the cause of systemic carnitine deficiency...
  48. ncbi Identification and characterization of the mouse cDNA encoding acyl-CoA:dihydroxyacetone phosphate acyltransferase
    R Ofman
    Department of Clinical Chemistry and Pediatrics, University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Biochim Biophys Acta 1439:89-94. 1999
    ..Northern blot analysis revealed high expression of DHAPAT especially in mouse heart, liver and testis...
  49. ncbi Cytosolic aspartate aminotransferase encoded by the AAT2 gene is targeted to the peroxisomes in oleate-grown Saccharomyces cerevisiae
    N Verleur
    Department of Clinical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands
    Eur J Biochem 247:972-80. 1997
    ..Disruption of the AAT2 gene did not affect growth on oleate. Furthermore beta-oxidation of palmitate was normal. These results indicate that AAT2 is not essential for the peroxisomal NAD(H) redox shuttle...
  50. ncbi Acyl-CoA:dihydroxyacetonephosphate acyltransferase: cloning of the human cDNA and resolution of the molecular basis in rhizomelic chondrodysplasia punctata type 2
    R Ofman
    Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, The Netherlands
    Hum Mol Genet 7:847-53. 1998
    ..All RCDP type 2 patients analyzed were found to contain mutations in their DHAPAT cDNA. This demonstrates that RCDP type 2 is the result of mutations in DHAPAT...
  51. ncbi Rapid stable isotope dilution analysis of very-long-chain fatty acids, pristanic acid and phytanic acid using gas chromatography-electron impact mass spectrometry
    P Vreken
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Dept of Clinical Chemistry, The Netherlands
    J Chromatogr B Biomed Sci Appl 713:281-7. 1998
    ..This method is suitable for routine screening for peroxisomal disorders...
  52. ncbi Subcellular localisation and processing of non-specific lipid transfer protein are not aberrant in Rhizomelic Chondrodysplasia Punctata fibroblasts
    J C Heikoop
    EC Slater Institute for Biochemical Research, University of Amsterdam, Academic Medical Centre, The Netherlands
    FEBS Lett 299:201-4. 1992
    ..Thus the component of the import machinery defective in RCDP is not required for the import of nsLTP into peroxisomes...
  53. ncbi Pristanic acid beta-oxidation in peroxisomal disorders: studies in cultured human fibroblasts
    N M Verhoeven
    Department of Clinical Chemistry, Metabolic Unit, De Boelelaan 1117, Free University Amsterdam, 1081 HV Amsterdam, The Netherlands
    Biochim Biophys Acta 1391:351-6. 1998
    ..In fibroblasts from patients affected with bifunctional protein deficiency, the concentrations of 2,3-pristenic acid and 3-hydroxypristanic acid in the medium were higher than in control cell lines...
  54. ncbi Late onset white matter disease in peroxisome biogenesis disorder
    P G Barth
    Department of Pediatrics, Emma Children s Hospital AMC, Amsterdam, The Netherlands
    Neurology 57:1949-55. 2001
    ..To report late onset cerebral white matter disease as a distinctive phenotype in peroxisome biogenesis disorder (PBD)...
  55. pmc The ABC transporter proteins Pat1 and Pat2 are required for import of long-chain fatty acids into peroxisomes of Saccharomyces cerevisiae
    E H Hettema
    Department of Biochemistry, Department of Pediatrics, Academic Medical Centre, Meibergdreef 15, AZ Amsterdam, The Netherlands
    EMBO J 15:3813-22. 1996
    ..Pat1p and Pat2p are the first examples of membrane proteins involved in metabolite transport across the peroxisomal membrane...
  56. ncbi Rapid diagnosis of organic acidemias and fatty-acid oxidation defects by quantitative electrospray tandem-MS acyl-carnitine analysis in plasma
    P Vreken
    University of Amsterdam, Dept of Clinical Chemistry, The Netherlands
    Adv Exp Med Biol 466:327-37. 1999
    ....
  57. ncbi Subcellular localization of dihydropyrimidine dehydrogenase
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital, The Netherlands
    Biol Chem 378:1047-53. 1997
    ..The distribution profile of the activity of DPD and the various marker enzymes indicated that DPD from rat liver was exclusively located in the cytosol since no significant activity of DPD could be detected in any subcellular organelle...
  58. ncbi Phytanoyl-CoA hydroxylase is present in human liver, located in peroxisomes, and deficient in Zellweger syndrome: direct, unequivocal evidence for the new, revised pathway of phytanic acid alpha-oxidation in humans
    G A Jansen
    Department of Pediatrics, Emma Children s Hospital, Amsterdam, The Netherlands
    Biochem Biophys Res Commun 229:205-10. 1996
    ..These results suggest that phytanic acid alpha-oxidation is peroxisomal and that it utilizes the coenzyme A derivative as substrate, thus giving further support in favour of the new, revised pathway of phytanic acid alpha-oxidation...
  59. ncbi A case of methemoglobinemia type II due to NADH-cytochrome b5 reductase deficiency: determination of the molecular basis
    C M Aalfs
    Department of Clinical Genetics, Academic Medical Center, Amsterdam, The Netherlands
    Hum Mutat 16:18-22. 2000
    ..Identification of different mutations at different positions in the DIA1 gene might shed light on the clinical and biochemical differences between methemoglobinemia type I and type II...
  60. ncbi Carnitine-acylcarnitine carrier deficiency: identification of the molecular defect in a patient
    M Huizing
    University Hospital, Department of Pediatrics, Nijmegen, The Netherlands
    J Inherit Metab Dis 21:262-7. 1998
  61. ncbi Carnitine biosynthesis. Purification of gamma-butyrobetaine hydroxylase from rat liver
    F M Vaz
    Department of Clinical Chemistry and Pediatrics, University of Amsterdam, The Netherlands
    Adv Exp Med Biol 466:117-24. 1999
    ..The enzyme activity was best conserved by storing the protein at 4 degrees C in the presence of 200 g/l glycerol and 10 mM DTT. We subsequently purified the enzyme from rat liver to apparent homogeneity by liquid chromatography...
  62. ncbi Carnitine biosynthesis: identification of the cDNA encoding human gamma-butyrobetaine hydroxylase
    F M Vaz
    Department of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    Biochem Biophys Res Commun 250:506-10. 1998
    ..Northern blot analysis showed gamma-butyrobetaine hydroxylase expression in kidney (high), liver (moderate), and brain (very low), while no expression could be detected in the other investigated tissues...
  63. ncbi Etherphospholipid biosynthesis and dihydroxyactetone-phosphate acyltransferase: resolution of the genomic organization of the human gnpat gene and its use in the identification of novel mutations
    R Ofman
    Department of Clinical Chemistry and Pediatrics, Academic Medical Centre, Amsterdam, 1100 DE, The Netherlands
    Biochem Biophys Res Commun 281:754-60. 2001
    ..Another mutation created an alternative splice donor-site causing the partial deletion of an exon. The data obtained provide conclusive evidence for the major role of GNPAT in etherphospholipid biosynthesis...
  64. ncbi Rhizomelic chondrodysplasia punctata is a peroxisomal protein targeting disease caused by a non-functional PTS2 receptor
    A M Motley
    Department of Biochemistry, University of Amsterdam, The Netherlands
    Nat Genet 15:377-80. 1997
    ..These findings prove that mutations in PEX7 cause RCDP, CG11...
  65. ncbi Molecular cloning and expression of human L-pipecolate oxidase
    L Ijlst
    Department of Clinical Chemistry, Universtity of Amsterdam, Academic Medical Centre, Amsterdam, 1100 DE, The Netherlands
    Biochem Biophys Res Commun 270:1101-5. 2000
    ..Furthermore, the deduced protein ends in -KAHL at its carboxy terminus which constitutes a typical Type I peroxisomal-targeting signal (PTS I)...
  66. ncbi Clinical and molecular variability in childhood periodic fever with hyperimmunoglobulinaemia D
    J Frenkel
    Departments of General Paediatrics, Wilhelmina Children's Hospital, University Medical Centre Utrecht, P.O. Box 85090, 3508AB Utrecht, The Netherlands
    Rheumatology (Oxford) 40:579-84. 2001
    ..Periodic fever and elevated IgD can result from other, still unknown, causes. Hence, testing for MK deficiency is necessary in patients with unexplained periodic fever...
  67. ncbi Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease
    C G Costa
    Department of Clinical Chemistry, Free University Hospital, Amsterdam, The Netherlands
    J Inherit Metab Dis 19:177-80. 1996
  68. pmc Common missense mutation G1528C in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Characterization and expression of the mutant protein, mutation analysis on genomic DNA and chromosomal localization of the mitochondrial trifunctional protein alpha
    L Ijlst
    Department of Pediatrics, Institute of Human Genetics, University Hospital Amsterdam, The Netherlands
    J Clin Invest 98:1028-33. 1996
    ..Finally, we show that the gene encoding the alpha subunit of MTP is located on chromosome 2p24.1-23.3...
  69. pmc Disorders of peroxisome biogenesis due to mutations in PEX1: phenotypes and PEX1 protein levels
    C Walter
    , , , , 44801 Bochum, Germany
    Am J Hum Genet 69:35-48. 2001
    ....
  70. ncbi 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...
  71. pmc Genetic heterogeneity in the cerebrohepatorenal (Zellweger) syndrome and other inherited disorders with a generalized impairment of peroxisomal functions. A study using complementation analysis
    S Brul
    Laboratory of Biochemistry, University of Amsterdam, The Netherlands
    J Clin Invest 81:1710-5. 1988
    ..We conclude that at least five genes are required for the assembly of a functional peroxisome...
  72. ncbi Alkyl dihydroxyacetone phosphate synthase in human fibroblasts and its deficiency in Zellweger syndrome
    G Schrakamp
    J Lipid Res 26:867-73. 1985
    ..The specific activity of this enzyme in liver, kidney, and brain homogenates from Zellweger patients was less than 15% of that in the corresponding tissues from controls...
  73. ncbi [Diagnosis of Zellweger's cerebrohepatorenal syndrome]
    R B Schutgens
    Tijdschr Kindergeneeskd 52:231-8. 1984
    ..These recent findings allow specific prenatal and postnatal diagnosis of this disease...
  74. pmc Peroxisomal and mitochondrial carnitine acetyltransferases of Saccharomyces cerevisiae are encoded by a single gene
    Y Elgersma
    Department of Biochemistry, E C Slater Institute, Amsterdam, The Netherlands
    EMBO J 14:3472-9. 1995
    ..We propose that in response to oleate, shorter transcripts are produced from which the peroxisomal form of CAT is translated, resulting in a CAT protein without a MTS, which can be targeted to peroxisomes...
  75. ncbi Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of the major disease-causing mutation in the alpha-subunit of the mitochondrial trifunctional protein
    L Ijlst
    Department of Pediatrics and Clinical Chemistry, University Hospital Amsterdam, The Netherlands
    Biochim Biophys Acta 1215:347-50. 1994
    ..The other two patients were heterozygous for this mutation. This mutation was not found in 55 different control subjects. This indicates a high frequency for this mutation in long-chain 3-hydroxyacyl-CoA dehydrogenase deficient patients...
  76. pmc Mitochondrial trifunctional protein deficiency. Catalytic heterogeneity of the mutant enzyme in two patients
    T Kamijo
    Department of Pediatrics, Shinshu University School of Medicine, Nagano, Japan
    J Clin Invest 93:1740-7. 1994
    ..Taken together, the results obtained show that in both patients, long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is caused by an abnormality in the trifunctional protein, even though there is a heterogeneity in both patients...
  77. ncbi Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome
    M A Willemsen
    Department of Paediatric Neurology, University Medical Centre, St Radboud, Nijmegen, The Netherlands
    Brain 124:1426-37. 2001
    ..The vast majority of SLS patients seem to be severely affected independent of their genotype...
  78. ncbi The CoA esters of 2-methyl-branched chain fatty acids and of the bile acid intermediates di- and trihydroxycoprostanic acids are oxidized by one single peroxisomal branched chain acyl-CoA oxidase in human liver and kidney
    G F Vanhove
    Katholieke Universiteit Leuven, Afdeling Farmacologie, Belgium
    J Biol Chem 268:10335-44. 1993
    ..Our results explain a number of clinical-chemical observations made in certain cases of peroxisomal beta-oxidation disorders...
  79. ncbi Succinyl-CoA:3-ketoacid CoA transferase (SCOT): cloning of the human SCOT gene, tertiary structural modeling of the human SCOT monomer, and characterization of three pathogenic mutations
    T Fukao
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Gifu, 500 8076, Japan
    Genomics 68:144-51. 2000
    ..Interestingly, GS05 had the mildest clinical course reported to date and detectable levels of SCOT protein in fibroblasts...
  80. ncbi Molecular basis of very long chain acyl-CoA dehydrogenase deficiency in three Israeli patients: identification of a complex mutant allele with P65L and K247Q mutations, the former being an exonic mutation causing exon 3 skipping
    H Watanabe
    Department of Pediatrics, Gifu University School of Medicine, Gifu, Japan
    Hum Mutat 15:430-8. 2000
    ..The P65L mutation locates 11 bases upstream of a splice donor site of intron 3. This is an example of an exonic mutation which affects exon-splicing...
  81. ncbi Genomic structure and identification of 11 novel mutations of the PEX6 (peroxisome assembly factor-2) gene in patients with peroxisome biogenesis disorders
    Z Zhang
    Department of Pediatrics, Gifu University School of Medicine, Japan
    Hum Mutat 13:487-96. 1999
    ..This mutation analysis will aid in understanding the functions of the PEX6 protein in peroxisomal biogenesis. Hum Mutat 13:487-496, 1999...
  82. pmc PEX13 is mutated in complementation group 13 of the peroxisome-biogenesis disorders
    Y Liu
    Department of Biological Chemistry, The Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
    Am J Hum Genet 65:621-34. 1999
    ..Taken together, these results provide strong evidence that mutations in PEX13 are responsible for disease in patient PBD222 and, by extension, in complementation group 13 of the PBDs...
  83. ncbi Functional heterogeneity of C-terminal peroxisome targeting signal 1 in PEX5-defective patients
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, Gifu, 500 8076, Japan
    Biochem Biophys Res Commun 262:504-8. 1999
    ..It seems apparent that -AKL and -KANL are poorer variants of PTS1 and are likely to be more susceptible to effects of mutation of its receptor, Pex5p...
  84. ncbi Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
    S M Houten
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Nat Genet 22:175-7. 1999
    ..Moreover, immunoblot analysis demonstrated a deficiency of MK protein in patient fibroblasts, indicating a protein-destabilizing effect of the mutations...
  85. pmc Defective PEX gene products correlate with the protein import, biochemical abnormalities, and phenotypic heterogeneity in peroxisome biogenesis disorders
    N Shimozawa
    Department of Paediatrics, Gifu University School of Medicine, Japan
    J Med Genet 36:779-81. 1999
    ..These data suggest that allelic heterogeneity of the PEX gene affects the peroxisomal protein import and functions and regulates the clinical severity in PBD...
  86. ncbi Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders
    N Shimozawa
    Department of Pediatrics, Gifu University School of Medicine, 40 Tsukasa Machi, Gifu 500 8076, Japan
    Hum Mol Genet 8:1077-83. 1999
    ....
  87. ncbi Mutations of OCTN2, an organic cation/carnitine transporter, lead to deficient cellular carnitine uptake in primary carnitine deficiency
    N L Tang
    Department of Chemical Pathology and Department of Paediatrics, Prince of Wales Hospital, Faculty of Medicine, The Chinese University of Hong Kong, Shatin, Hong Kong, People s Republic of China
    Hum Mol Genet 8:655-60. 1999
    ..Our data indicate that mutations in OCTN2 are responsible for CDSP. Identification of the underlying gene in this disease will allow rapid detection of carriers and postnatal diagnosis of affected patients...
  88. pmc Human PEX19: cDNA cloning by functional complementation, mutation analysis in a patient with Zellweger syndrome, and potential role in peroxisomal membrane assembly
    Y Matsuzono
    Department of Biology, Faculty of Science, Kyushu University, Fukuoka 812 8581, Japan
    Proc Natl Acad Sci U S A 96:2116-21. 1999
    ..Moreover, Pex19p is apparently involved at the initial stage in peroxisome membrane assembly, before the import of matrix protein...
  89. ncbi The structure and organization of the human carnitine/acylcarnitine translocase (CACT1) gene2
    V Iacobazzi
    Department of Pharmaco Biology, Laboratory of Biochemistry and Molecular Biology, University of Bari, Italy
    Biochem Biophys Res Commun 252:770-4. 1998
    ....
  90. pmc Mild trifunctional protein deficiency is associated with progressive neuropathy and myopathy and suggests a novel genotype-phenotype correlation
    J A Ibdah
    Department of Medicine, Washington University School of Medicine, St Louis, Missouri 63110, USA
    J Clin Invest 102:1193-9. 1998
    ....
  91. pmc PEX12, the pathogenic gene of group III Zellweger syndrome: cDNA cloning by functional complementation on a CHO cell mutant, patient analysis, and characterization of PEX12p
    K Okumoto
    Department of Biology, Faculty of Science, Kyushu University, Fukuoka 812 8581, Japan
    Mol Cell Biol 18:4324-36. 1998
    ..Moreover, truncation and site mutation studies, including patient PEX12 analysis, demonstrated that the cytoplasmically oriented N- and C-terminal parts of Pex12p are essential for biological function...
  92. pmc Isolated 2-methylbutyrylglycinuria caused by short/branched-chain acyl-CoA dehydrogenase deficiency: identification of a new enzyme defect, resolution of its molecular basis, and evidence for distinct acyl-CoA dehydrogenases in isoleucine and valine metab
    B S Andresen
    Research Unit for Molecular Medicine, Aarhus University Hospital, and Faculty of Health Science, Skejby Sygehus, DK 8200 Arhus N, Denmark
    Am J Hum Genet 67:1095-103. 2000
    ..In conclusion, we report the first mutation in the SBCAD gene, show that it results in an isolated defect in isoleucine catabolism, and indicate that ACAD-8 is a mitochondrial enzyme that functions in valine catabolism...
  93. pmc HMG CoA lyase deficiency: identification of five causal point mutations in codons 41 and 42, including a frequent Saudi Arabian mutation, R41Q
    G A Mitchell
    Service de Genetique Medicale, Hopital Sainte Justine, Montreal, Quebec H3T 1C5, Canada
    Am J Hum Genet 62:295-300. 1998
    ..Codons 41 and 42 are important for normal HL catalysis and account for a disproportionate 21 (26%) of 82 of mutant alleles in our group of HL-deficient probands...
  94. ncbi 3-Hydroxy-3-methylglutaryl CoA lyase (HL): mouse and human HL gene (HMGCL) cloning and detection of large gene deletions in two unrelated HL-deficient patients
    S P Wang
    Service de Genetique Medicale, Hopital Sainte Justine, Montreal, Quebec, Canada
    Genomics 33:99-104. 1996
    ..By genomic Southern blot analysis and exonic PCR, we found 2 of 33 HL-deficient probands to be homozygous for large deletions in the HL gene...
  95. ncbi Molecular basis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency: identification of two new mutations
    L Ijlst
    University of Amsterdam, Department of Clinical Chemistry, The Netherlands
    J Inherit Metab Dis 20:420-2. 1997
  96. ncbi X-linked cardioskeletal myopathy and neutropenia (Barth syndrome) (MIM 302060)
    P G Barth
    Emma Children s Hospital, Department of Pediatrics, Amsterdam, The Netherlands
    J Inherit Metab Dis 22:555-67. 1999
    ..This points to the (lipid) structure of the inner mitochondrial membrane as a promising new area of research...