Hans R Waterham

Summary

Affiliation: Academic Medical Center
Country: The Netherlands

Publications

  1. ncbi Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Chemistry, The Netherlands
    Biochem J 364:157-63. 2002
  2. ncbi Mutational spectrum of Smith-Lemli-Opitz syndrome
    Hans R Waterham
    Laboratory Genetic Metabolic Diseases F0 222, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 160:263-84. 2012
  3. ncbi Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011
  4. ncbi Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
    L Henneman
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:625-32. 2010
  5. ncbi 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
  6. ncbi 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
  7. ncbi A lethal defect of mitochondrial and peroxisomal fission
    Hans R Waterham
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 356:1736-41. 2007
  8. ncbi Defects of cholesterol biosynthesis
    Hans R Waterham
    Laboratory Genetic Metabolic Diseases, F0 224, Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 580:5442-9. 2006
  9. ncbi Inherited disorders of cholesterol biosynthesis
    H R Waterham
    Laboratory Genetic Metabolic Diseases F0 224, Department of Paediatrics Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 61:393-403. 2002
  10. ncbi Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
    Saskia H L Mandey
    Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:796-802. 2006

Detail Information

Publications113 found, 100 shown here

  1. ncbi Novel disease-causing mutations in the dihydropyrimidine dehydrogenase gene interpreted by analysis of the three-dimensional protein structure
    Andre B P van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Chemistry, The Netherlands
    Biochem J 364:157-63. 2002
    ..Our data demonstrate for the first time the possible consequences of missense mutations in the DPD gene on the function and stability of the DPD enzyme...
  2. ncbi Mutational spectrum of Smith-Lemli-Opitz syndrome
    Hans R Waterham
    Laboratory Genetic Metabolic Diseases F0 222, Academic Medical Center, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands
    Am J Med Genet C Semin Med Genet 160:263-84. 2012
    ..Using information available from published case reports and from patients identified in our clinical diagnostic laboratory, we analyzed correlations between genotype, clinical presentation and 7-dehydrocholesterol level...
  3. ncbi Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene
    Caroline Sevin
    Pediatric Neurology and Endocrinology, Hopital St Vincent de Paul, Paris, France
    Orphanet J Rare Dis 6:8. 2011
    ..To expand the spectrum of genetic causes of autosomal recessive cerebellar ataxia (ARCA)...
  4. ncbi Compromized geranylgeranylation of RhoA and Rac1 in mevalonate kinase deficiency
    L Henneman
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:625-32. 2010
    ..The limited capacity of geranylgeranylation in MKD cells readily leads to markedly increased levels of nonisoprenylated and activated GTPases, which will affect proper signaling by these GTPases...
  5. ncbi 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...
  6. ncbi 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...
  7. ncbi A lethal defect of mitochondrial and peroxisomal fission
    Hans R Waterham
    Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands
    N Engl J Med 356:1736-41. 2007
    ..Overexpression of the mutant DLP1 in control cells reproduced the fission defect. Our findings are representative of a class of disease characterized by defects in both mitochondria and peroxisomes...
  8. ncbi Defects of cholesterol biosynthesis
    Hans R Waterham
    Laboratory Genetic Metabolic Diseases, F0 224, Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    FEBS Lett 580:5442-9. 2006
    ..The etiology of the underlying pathophysiology may involve multiple affected processes due to lowered cholesterol and/or the elevated, teratogenic levels of the intermediate sterol precursors...
  9. ncbi Inherited disorders of cholesterol biosynthesis
    H R Waterham
    Laboratory Genetic Metabolic Diseases F0 224, Department of Paediatrics Emma Children s Hospital, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 61:393-403. 2002
    ..Patients afflicted with these disorders are characterized by multiple morphogenic and congenital anomalies including internal organ, skeletal and/or skin abnormalities...
  10. ncbi Mutational spectrum and genotype-phenotype correlations in mevalonate kinase deficiency
    Saskia H L Mandey
    Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:796-802. 2006
    ..The finding that the residual activity in MKD can be manipulated by environmental conditions may offer therapeutic options to alleviate or prevent the clinical symptoms associated with MKD...
  11. ncbi Autosomal recessive HEM/Greenberg skeletal dysplasia is caused by 3 beta-hydroxysterol delta 14-reductase deficiency due to mutations in the lamin B receptor gene
    Hans R Waterham
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Am J Hum Genet 72:1013-7. 2003
    ..The fact that the healthy mother of the fetus showed hypolobulated nuclei in 60% of her granulocytes confirms that classic Pelger-Huët anomaly represents the heterozygous state of 3beta-hydroxysterol delta(14)-reductase deficiency...
  12. 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...
  13. ncbi Clinical, biochemical, and mutational spectrum of peroxisomal acyl-coenzyme A oxidase deficiency
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center at the University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 28:904-12. 2007
    ....
  14. ncbi Differential substrate specificities of human ABCD1 and ABCD2 in peroxisomal fatty acid β-oxidation
    Carlo W T van Roermund
    Department of Pediatrics, Academic Medical Centre, University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1811:148-52. 2011
    ....
  15. ncbi Identification of the molecular defect in patients with peroxisomal mosaicism using a novel method involving culturing of cells at 40 degrees C: implications for other inborn errors of metabolism
    Jeannette Gootjes
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Hum Mutat 24:130-9. 2004
    ....
  16. ncbi Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, Academic Medical Center at University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 78:112-24. 2006
    ..From our data, we conclude that, on the basis of the predicted effect of the mutations on protein structure, a genotype-phenotype correlation exists for DBP deficiency...
  17. ncbi Metabolite transport across the peroxisomal membrane
    Wouter F Visser
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, F0 224, Meibergdreef 9, Amsterdam, 1105 AZ The Netherlands
    Biochem J 401:365-75. 2007
    ..The nature of the substrates handled by the different ABC transporters is less clear. In this review we will describe the current state of knowledge of the permeability properties of the peroxisomal membrane...
  18. ncbi Identification of PEX7 as the second gene involved in Refsum disease
    Daan M van den Brink
    Department of Clinical Chemistry, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Adv Exp Med Biol 544:69-70. 2003
  19. ncbi A novel defect of peroxisome division due to a homozygous non-sense mutation in the PEX11β gene
    Merel S Ebberink
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Med Genet 49:307-13. 2012
    ..Defects in any of these proteins result in a peroxisome biogenesis disorder. The authors present here a novel genetic defect specifically affecting the division of peroxisomes...
  20. ncbi Mevalonate kinase is a cytosolic enzyme in humans
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam
    J Cell Sci 117:631-9. 2004
    ..No indication of a peroxisomal localisation was obtained. Our results do not support a central role for peroxisomes in isoprenoid biosynthesis...
  21. ncbi Identification of the human mitochondrial FAD transporter and its potential role in multiple acyl-CoA dehydrogenase deficiency
    András N Spaan
    Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases F0 224, Academic Medical Centre, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Mol Genet Metab 86:441-7. 2005
    ..Candidates for mutations in the MFT gene are patients with a clinical suspicion of MADD but without any mutation in the alpha- or beta-subunit of ETF or ETF-DH...
  22. ncbi Flavin adenine dinucleotide status and the effects of high-dose riboflavin treatment in short-chain acyl-CoA dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 67:304-8. 2010
    ..As our study could not demonstrate a clinically relevant effect of riboflavin, general use of riboflavin cannot be recommended...
  23. ncbi The human peroxisomal ABC half transporter ALDP functions as a homodimer and accepts acyl-CoA esters
    Carlo W T van Roermund
    Lab Genetic Metabolic Diseases, Rm F0 226, Academic Medical Center, University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    FASEB J 22:4201-8. 2008
    ..Our data indicate that ALDP can function as a homodimer and is involved in the transport of acyl-CoA esters across the peroxisomal membrane...
  24. ncbi Human mevalonate pyrophosphate decarboxylase is localized in the cytosol
    Sietske Hogenboom
    Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 81:216-24. 2004
    ..Our results do not support a central role of peroxisomes in the isoprenoid/cholesterol biosynthetic pathway...
  25. ncbi Genotype-phenotype correlation in PEX5-deficient peroxisome biogenesis defective cell lines
    Merel S Ebberink
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 30:93-8. 2009
    ..The location of the different mutations within the PEX5 amino acid sequence correlates rather well with the peroxisomal protein import defect observed in the cell lines...
  26. ncbi Impaired neuronal migration and endochondral ossification in Pex7 knockout mice: a model for rhizomelic chondrodysplasia punctata
    Pedro Brites
    Academic Medical Center, Laboratory of Genetic Metabolic Diseases F0 224, Meibergdreef 9, 1105AZ Amsterdam, The Netherlands
    Hum Mol Genet 12:2255-67. 2003
    ..These findings demonstrate that Pex7 knockout mice provide an important model to study the role of peroxisomal functioning in the pathogenesis of the human disorder...
  27. ncbi The enzymology of mitochondrial fatty acid beta-oxidation and its application to follow-up analysis of positive neonatal screening results
    Ronald J A Wanders
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 33:479-94. 2010
    ..In this review, we will describe the current state of knowledge in the field of fatty acid oxidation enzymology and its application to the follow-up analysis of positive neonatal screening results...
  28. ncbi Peroxisomal fatty acid uptake mechanism in Saccharomyces cerevisiae
    Carlo W T van Roermund
    Departments of Pediatrics and Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Biol Chem 287:20144-53. 2012
    ..Importantly, the Pxa1p-Pxa2p complex shares this molecular mechanism with HsABCD1 and HsABCD2...
  29. ncbi Cholesterol biosynthesis is not defective in peroxisome biogenesis defective fibroblasts
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    Mol Genet Metab 80:290-5. 2003
    ..Our results imply that functional peroxisomes are not a prerequisite for the functioning of enzymes involved in cholesterol/isoprenoid biosynthesis and as such raise doubts about the true involvement of peroxisomes therein...
  30. ncbi Peroxisome biogenesis disorders with prolonged survival: phenotypic expression in a cohort of 31 patients
    Bwee Tien Poll-The
    Department of Pediatrics, Emma Children s Hospital, Amsterdam, The Netherlands
    Am J Med Genet A 126:333-8. 2004
    ..2097insT group. This indicates that next to the PEX1 genotype other yet unknown factors determine the ultimate phenotype...
  31. ncbi Peroxisome deficiency does not result in deficiency of enzymes involved in cholesterol biosynthesis
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics/Emma Children's Hospital, Amsterdam, The Netherlands
    Adv Exp Med Biol 544:329-30. 2003
  32. ncbi Clinical implications of mutation analysis in primary hyperoxaluria type 1
    Christiaan S van Woerden
    Emma Children s Hospital AMC, Amsterdam, The Netherlands
    Kidney Int 66:746-52. 2004
    ..The aim of this study was to determine this association in order to find clues for improvement of patient care...
  33. ncbi Biochemistry of mammalian peroxisomes revisited
    Ronald J A Wanders
    Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Disease, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Annu Rev Biochem 75:295-332. 2006
    ....
  34. ncbi Resolution of the molecular defect in a patient with peroxisomal mosaicism in the liver
    Jeannette Gootjes
    Laboratory Genetic Metabolic Diseases and the Department of Pediatrics/Emma Children's Hospital, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands
    Adv Exp Med Biol 544:107-11. 2003
  35. ncbi Spectrum of PEX6 mutations in Zellweger syndrome spectrum patients
    Merel S Ebberink
    University of Amsterdam, Academic Medical Center, Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Hum Mutat 31:E1058-70. 2010
    ..We analyzed the PEX6 genes of 75 patients assigned to the PEX6 complementation group. We identified a total of 77 different mutations of which 47 mutations have not been reported previously, and 14 polymorphic variants...
  36. ncbi Identification of an unusual variant peroxisome biogenesis disorder caused by mutations in the PEX16 gene
    Merel S Ebberink
    Academic Medical Centre, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Department of Paediatrics Emma Children s Hospital, Amsterdam, The Netherlands
    J Med Genet 47:608-15. 2010
    ..Fibroblasts from these patients displayed a defect in the import of peroxisomal matrix and membrane proteins, resulting in a total absence of peroxisomal remnants...
  37. 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...
  38. ncbi 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...
  39. ncbi Biochemical markers predicting survival in peroxisome biogenesis disorders
    Jeannette Gootjes
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, P.O. Box 22700, 1100 DE Amsterdam, The Netherlands
    Adv Exp Med Biol 544:67-8. 2003
  40. ncbi Peroxisomal fatty acid alpha- and beta-oxidation in health and disease: new insights
    Ronald J A Wanders
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry, Emma Children 's Hospital (Laboratory for Genetic and Metabolic Disease, Meibergdreef 9, 1105 AZ, Amsterdam, The Netherlands
    Adv Exp Med Biol 544:293-302. 2003
  41. ncbi Mutational spectrum in the PEX7 gene and functional analysis of mutant alleles in 78 patients with rhizomelic chondrodysplasia punctata type 1
    Alison M Motley
    Departments of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 70:612-24. 2002
    ..This was confirmed in vitro by expression of the eight-nucleotide duplication-containing sequence fused in different reading frames to the coding sequence of firefly luciferase in COS cells...
  42. ncbi Plasmalogens participate in very-long-chain fatty acid-induced pathology
    Pedro Brites
    Academic Medical Center, Lab GMZ F0 224, Amsterdam, The Netherlands
    Brain 132:482-92. 2009
    ..Nervous tissue deficient in plasmalogens is more prone to damage, illustrating the importance of plasmalogens in peroxisomal disorders including Zellweger syndrome and X-linked adrenoleukodystrophy...
  43. ncbi Carrier frequency of the V377I (1129G>A) MVK mutation, associated with Hyper-IgD and periodic fever syndrome, in the Netherlands
    Sander M Houten
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Eur J Hum Genet 11:196-200. 2003
    ..Homozygotes for V377I might exhibit a much milder phenotype of MK deficiency or no disease-phenotype at all...
  44. ncbi Identification of PEX7 as the second gene involved in Refsum disease
    Daan M van den Brink
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Am J Hum Genet 72:471-7. 2003
    ....
  45. ncbi Clinical, biochemical, and genetic heterogeneity in short-chain acyl-coenzyme A dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JAMA 296:943-52. 2006
    ..Screening for SCADD is included in expanded newborn screening programs in most US and Australian states...
  46. ncbi Manipulation of isoprenoid biosynthesis as a possible therapeutic option in mevalonate kinase deficiency
    Marit S Schneiders
    Laboratory Genetic Metabolic Diseases (F0-224, Departments of Clinical Chemistry and Pediatrics, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Arthritis Rheum 54:2306-13. 2006
    ..CONCLUSION: Our results indicate that manipulations of the isoprenoid biosynthesis pathway that promote the synthesis of nonsterol isoprenoids may provide an interesting therapeutic option for the treatment of MK deficiency...
  47. ncbi Temperature dependence of mutant mevalonate kinase activity as a pathogenic factor in hyper-IgD and periodic fever syndrome
    Sander M Houten
    Departments of Paediatrics Emma Children s Hospital and Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mol Genet 11:3115-24. 2002
    ..Our results suggest that minor elevations in temperature can set off a chain of events with MK becoming progressively rate-limiting, leading to a temporary deficiency of isoprenoid end-products, which induces inflammation and fever...
  48. ncbi Demonstration of bile acid transport across the mammalian peroxisomal membrane
    Wouter F Visser
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, F0 224, Meibergdreef 9, Amsterdam, 1105 AZ, The Netherlands
    Biochem Biophys Res Commun 357:335-40. 2007
    ..The transporter was further characterized using this assay, which led to the identification of DIDS as an inhibitor of the peroxisomal bile-acid transporter, and allowed us to establish some kinetic parameters for the transport activity...
  49. ncbi Phosphomevalonate kinase is a cytosolic protein in humans
    Sietske Hogenboom
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, Amsterdam, The Netherlands
    J Lipid Res 45:697-705. 2004
    ..No indication of a peroxisomal localization was obtained. Our results do not support a central role of peroxisomes in isoprenoid biosynthesis...
  50. ncbi Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7)
    Gerbert A Jansen
    Laboratory of Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 23:209-18. 2004
    ..Interestingly, Refsum disease is genetically heterogeneous; two genes, PHYH (also named PAHX) and PEX7, have been identified to cause Refsum disease, as reviewed in this work...
  51. ncbi A role for geranylgeranylation in interleukin-1beta secretion
    Saskia H L Mandey
    Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Arthritis Rheum 54:3690-5. 2006
    ..The goal of our study was to determine whether a temporary shortage of certain isoprenoid end products and/or the accumulation of mevalonic acid is the cause of interleukin-1beta (IL-1beta) secretion in MKD...
  52. ncbi Regulation of isoprenoid/cholesterol biosynthesis in cells from mevalonate kinase-deficient patients
    Sander M Houten
    Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, Amsterdam 1100 DE, The Netherlands
    J Biol Chem 278:5736-43. 2003
    ..Our results indicate that MK-deficient cells maintain the flux through the isoprenoid/cholesterol biosynthesis pathway by elevating intracellular mevalonate levels...
  53. ncbi Fasting and fat-loading tests provide pathophysiological insight into short-chain acyl-coenzyme a dehydrogenase deficiency
    Bianca T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Pediatr 156:121-7. 2010
    ..To gain insight into the pathophysiological and clinical consequences of short-chain acyl-coenzyme A dehydrogenase deficiency (SCADD)...
  54. ncbi Adult peroxisomal acyl-coenzyme A oxidase deficiency with cerebellar and brainstem atrophy
    Sacha Ferdinandusse
    Laboratory Genetic Metabolic Diseases, F0 220, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    J Neurol Neurosurg Psychiatry 81:310-2. 2010
    ..Magnetic resonance brain imaging revealed profound atrophy of the brainstem and cerebellum...
  55. ncbi First identification of a 2-ketoglutarate/isocitrate transport system in mammalian peroxisomes and its characterization
    Wouter F Visser
    University of Amsterdam, Academic Medical Centre, Department of Clinical Chemistry and Pediatrics, Laboratory Genetic Metabolic Diseases, Amsterdam, The Netherlands
    Biochem Biophys Res Commun 348:1224-31. 2006
    ..This transporter activity is assumed to be required to sustain the activity of intraperoxisomal isocitrate-dehydrogenase, which is involved in the regeneration of NADPH in the peroxisomal matrix...
  56. ncbi The peroxisomal lumen in Saccharomyces cerevisiae is alkaline
    Carlo W T van Roermund
    Department of Clinical Chemistry, University of Amsterdam, Academic Medical Centre, PO Box 22700, 1100 DE, Amsterdam, The Netherlands
    J Cell Sci 117:4231-7. 2004
    ..1+/-0.2 in pxa2 Delta cells. Our combined results suggest that the proton gradient across the peroxisomal membrane is dependent on Ant1p activity and required for the beta-oxidation of medium chain fatty acids...
  57. ncbi Peroxisomal disorders: the single peroxisomal enzyme deficiencies
    Ronald J A Wanders
    Academic Medical Centre, University of Amsterdam, Netherlands
    Biochim Biophys Acta 1763:1707-20. 2006
    ....
  58. ncbi Demonstration and characterization of phosphate transport in mammalian peroxisomes
    Wouter F Visser
    Laboratory of Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Biochem J 389:717-22. 2005
    ..The transporter can be distinguished from the mitochondrial phosphate transporter by its different sensitivity to inhibitors...
  59. ncbi Biochemical markers predicting survival in peroxisome biogenesis disorders
    J Gootjes
    Laboratory Genetic Metabolic Diseases, Academic Medical Center, University of Amsterdam, The Netherlands
    Neurology 59:1746-9. 2002
    ..Combination of both markers gives an even better prediction. These results contribute to the management of patients with PBD...
  60. ncbi Necrotizing enterocolitis and respiratory distress syndrome as first clinical presentation of mitochondrial trifunctional protein deficiency
    Eugène F Diekman
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    JIMD Rep 7:1-6. 2013
    ..Furthermore, as illustrated by the cases we propose a classification system to discriminate LCHAD, LCKAT and MTP deficiency based on enzymatic analysis...
  61. ncbi Brown-Vialetto-Van Laere and Fazio Londe syndrome is associated with a riboflavin transporter defect mimicking mild MADD: a new inborn error of metabolism with potential treatment
    Annet M Bosch
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 34:159-64. 2011
    ....
  62. ncbi Inhibition of the isoprenoid biosynthesis pathway; detection of intermediates by UPLC-MS/MS
    Linda Henneman
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Clinical Chemistry and Pediatrics, Amsterdam, The Netherlands
    Biochim Biophys Acta 1811:227-33. 2011
    ..Our method can be used to test new inhibitors and their effect on overall isoprenoid biosynthesis...
  63. ncbi Novel mutations in the PEX2 gene of four unrelated patients with a peroxisome biogenesis disorder
    Jeannette Gootjes
    Lab. Genetic Metabolic Diseases (F0-224, Department of Clinical Chemistry and Peadiatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Pediatr Res 55:431-6. 2004
    ..This might be due to an increased instability of PEX2 due to the R for C substitution or to a dominant negative effect on interacting proteins...
  64. ncbi 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...
  65. 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...
  66. ncbi Genetics and molecular basis of human peroxisome biogenesis disorders
    Hans R Waterham
    University of Amsterdam, The Netherlands
    Biochim Biophys Acta 1822:1430-41. 2012
    ..In this review we describe the current status of genetic analysis and the molecular basis of PBDs...
  67. ncbi Absence of functional peroxisomes does not lead to deficiency of enzymes involved in cholesterol biosynthesis
    Sietske Hogenboom
    Laboratory for Genetic Metabolic Diseases F0 224, Department of Pediatrics, Emma Children s Hospital, Academic Medical Center, P O Box 22700, 1100 DE Amsterdam, The Netherlands
    J Lipid Res 43:90-8. 2002
    ..Our data provide an explanation for the conflicting findings in the literature and show that great care should be taken in the interpretation of data obtained in postmortem material...
  68. ncbi Identification of novel mutations in classical galactosemia
    Annet M Bosch
    Academic Medical Centre, University of Amsterdam, Emma s Children s Hospital, Amsterdam, The Netherlands
    Hum Mutat 25:502. 2005
    ..508-29delT), and a large deletion encompassing at least exons 1-11. Six of these novel mutations were found in patients of Dutch descent: p.R51Q, p.S135W, p.K229N, p.Q252H, p.X380C, and c.410dupT...
  69. ncbi Long-chain fatty acid oxidation during early human development
    Nadia A Oey
    Department of Pediatrics, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Pediatr Res 57:755-9. 2005
    ..The observed pattern of expression during early human development is well in line with the spectrum of clinical signs and symptoms reported in patients with VLCAD or LCHAD/MTP deficiency...
  70. 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...
  71. 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...
  72. 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...
  73. 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...
  74. ncbi Functions and biosynthesis of plasmalogens in health and disease
    Pedro Brites
    Department of Clinical Chemistry, Academic Medical Center, Lab Genetic Metabolic Diseases, F0-224, Meibergdreef 9, Amsterdam 1105 AZ, Netherlands
    Biochim Biophys Acta 1636:219-31. 2004
    ..In this review, we summarize the current state of knowledge with respect to the enzymatic synthesis of plasmalogens, the characteristic topology of the enzymes involved and the biological roles that have been assigned to plasmalogens...
  75. ncbi Detection of nonsterol isoprenoids by HPLC-MS/MS
    Linda Henneman
    Academic Medical Center, University of Amsterdam, Laboratory Genetic Metabolic Diseases, Departments of Paediatrics Emma Children s Hospital and Clinical Chemistry, Amsterdam, The Netherlands
    Anal Biochem 383:18-24. 2008
    ..This method will be suitable for measuring profiles of isoprenoid intermediates in cells with compromised isoprenoid biosynthesis and for determining the specificity of potential inhibitors of the pathway...
  76. ncbi The natural history of medium-chain acyl CoA dehydrogenase deficiency in the Netherlands: clinical presentation and outcome
    Terry G J Derks
    Division and Laboratory of Metabolic Diseases, Department of Pediatrics, Beatrix Children s Hospital, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
    J Pediatr 148:665-670. 2006
    ..To describe the clinical presentation and long-term follow-up of a large cohort of patients with medium-chain acyl-CoA dehydrogenase (MCAD) deficiency...
  77. 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
    ....
  78. ncbi Fatty acid metabolism in Saccharomyces cerevisiae
    C W T van Roermund
    University of Amsterdam, Academic Medical Centre, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands
    Cell Mol Life Sci 60:1838-51. 2003
    ....
  79. 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
    ....
  80. ncbi Identification of a cDNA encoding an isoform of human CTP synthetase
    A B Van Kuilenburg
    Academic Medical Center, University of Amsterdam, Emma Children s Hospital and Department of Clinical Chemistry, Laboratory Genetic Metabolic Diseases, PO Box 22700, 1100 DE, Amsterdam, The Netherlands
    Biochim Biophys Acta 1492:548-52. 2000
    ..The gene encoding type II CTP synthetase has been localized on chromosome Xp22...
  81. ncbi The 625G>A SCAD gene variant is common but not associated with increased C4-carnitine in newborn blood spots
    B T van Maldegem
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, The Netherlands
    J Inherit Metab Dis 28:557-62. 2005
    ..However, homozygosity for the 625G>A variant might be only a biochemical phenomenon, representing a 'nondisease'...
  82. 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...
  83. ncbi Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders
    R J A Wanders
    Department of Pediatrics, Academic Medical Centre, Emma Children s Hospital, University of Amsterdam, Amsterdam, The Netherlands
    Clin Genet 67:107-33. 2005
    ..Less progress has been made with respect to the pathophysiology and therapy of PBDs. The increasing availability of mouse models for these disorders is a major step forward in this respect...
  84. ncbi Neuroimaging of peroxisome biogenesis disorders (Zellweger spectrum) with prolonged survival
    P G Barth
    Department of Pediatric Neurology, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, The Netherlands
    Neurology 62:439-44. 2004
    ..To define neuroimaging characteristics of peroxisome biogenesis disorders (PBD) with prolonged survival belonging to the Zellweger spectrum (ZeS)...
  85. ncbi Lethal outcome of a patient with a complete dihydropyrimidine dehydrogenase (DPD) deficiency after administration of 5-fluorouracil: frequency of the common IVS14+1G>A mutation causing DPD deficiency
    A B Van Kuilenburg
    Emma Children s Hospital and Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    Clin Cancer Res 7:1149-53. 2001
    ..In our view, the apparently high prevalence of the IVS14+1G>A mutation in the normal population, with 1.8% heterozygotes, warrants genetic screening for the presence of this mutation in cancer patients before the administration of 5FU...
  86. ncbi Identification of human PMP34 as a peroxisomal ATP transporter
    W F Visser
    Laboratory Genetic Metabolic Diseases, Department of Clinical Chemistry and Pediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    Biochem Biophys Res Commun 299:494-7. 2002
    ..Furthermore, we have purified PMP34, reconstituted the protein in proteoliposomes, and provide direct proof that PMP34 is an adenine nucleotide transporter...
  87. ncbi Primary hyperoxaluria type 1 with a novel mutation
    Sidharth Kumar Sethi
    Departments of Clinical Chemistry and Pediatrics, Academic Medical Centre, Amsterdam, The Netherlands
    Indian J Pediatr 76:215-7. 2009
    ..The index case progressed to end stage renal disease at 5 months of age. His 4 month old sibling is presently under follow up with preserved renal function...
  88. ncbi Novel mutations in the PEX12 gene of patients with a peroxisome biogenesis disorder
    Jeannette Gootjes
    Department of Clinical Chemistry, Academic Medical Center, University of Amsterdam, The Netherlands
    Eur J Hum Genet 12:115-20. 2004
    ..Thus, the genotypes of our CG3 patients show a good correlation with the biochemical and clinical phenotype of the patients...
  89. ncbi Midface hypoplasia, obesity, developmental delay and neonatal hypotonia in two brothers
    Lieke Rozendaal
    Department of Pediatrics and Clinical Genetics, Academic Medical Center, Meibergdreef 15, 1105 AZ Amsterdam, The Netherlands
    Clin Dysmorphol 12:9-13. 2003
    ..No additional anomalies were found, and metabolic investigations including peroxisomal functions gave normal results. We suggest the patients have a hitherto unreported condition, with an autosomal or X-linked mode of inheritance...
  90. ncbi Reinvestigation of peroxisomal 3-ketoacyl-CoA thiolase deficiency: identification of the true defect at the level of d-bifunctional protein
    S Ferdinandusse
    Department of Clinical Chemistry, Emma Children s Hospital, Academic Medical Center, University of Amsterdam, 1100 DE Amsterdam, The Netherlands
    Am J Hum Genet 70:1589-93. 2002
    ....
  91. ncbi High activity of fatty acid oxidation enzymes in human placenta: implications for fetal-maternal disease
    N A Oey
    Department of Paediatrics, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands
    J Inherit Metab Dis 26:385-92. 2003
    ....
  92. 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...
  93. 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
    ....
  94. 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...
  95. ncbi Smith-Lemli-Opitz syndrome and the DHCR7 gene
    P E Jira
    Department of Pediatrics, University Medical Centre Nijmegen, 6500 HB Nijmegen, The Netherlands
    Ann Hum Genet 67:269-80. 2003
    ..Ninety-one different mutations in the DHCR7 gene have been published to date. This paper is a review of the clinical, biochemical and molecular genetic aspects...
  96. ncbi Carnitine-acylcarnitine translocase deficiency, clinical, biochemical and genetic aspects
    M E Rubio-Gozalbo
    Department of Pediatrics, University Hospital Maastricht, Maastricht, The Netherlands
    Mol Aspects Med 25:521-32. 2004
    ..Subsequently, mutational analysis of the CACT gene can be performed. So far, 9 different mutations have been identified in the CACT gene...
  97. ncbi Nonorthologous gene displacement of phosphomevalonate kinase
    S M Houten
    Department of Pediatrics, Emma Children's Hospital, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Mol Genet Metab 72:273-6. 2001
    ..The fact that ERG8 orthologues are found in pathogenic eubacteria and fungi but not in man makes them attractive targets for the development of antibacterial and/or antifungal drugs...
  98. ncbi A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria
    H Bikker
    Laboratory of Genetic Metabolic Diseases and Department of Clinical Genetics Pediatrics Pediatric Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Hum Mutat 27:640-3. 2006
    ..This is the first report of methylmalonyl-CoA epimerase deficiency, thereby unequivocally demonstrating the biochemical role of this enzyme in human metabolism...
  99. 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...
  100. ncbi Organization and integration of biomedical knowledge with concept maps for key peroxisomal pathways
    A M Willemsen
    Department of Clinical Chemistry and Pediatrics, Bioinformatics Laboratory, Academic Medical Center, University of Amsterdam, AZ Amsterdam, The Netherlands
    Bioinformatics 24:i21-7. 2008
    ....
  101. ncbi Isoprenoid biosynthesis in hereditary periodic fever syndromes and inflammation
    S M Houten
    Laboratory Genetic Metabolic Diseases, Department of Pediatrics, Emma Children s Hospital, and Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
    Cell Mol Life Sci 60:1118-34. 2003
    ..We review the molecular, biochemical and immunological aspects of MK deficiency and discuss the relations between isoprenoid biosynthesis and inflammation. Finally, we compare MK deficiency with other autoinflammatory syndromes...