J Smeitink

Summary

Affiliation: University Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint The genetics and pathology of oxidative phosphorylation
    J Smeitink
    Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Rev Genet 2:342-52. 2001
  2. ncbi request reprint Human NADH:ubiquinone oxidoreductase
    J Smeitink
    Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
    J Bioenerg Biomembr 33:259-66. 2001
  3. ncbi request reprint Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
    O Grafakou
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Medical Center Nijmegen, The Netherlands
    J Inherit Metab Dis 26:593-600. 2003
  4. pmc Human mitochondrial complex I in health and disease
    J Smeitink
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:1505-10. 1999
  5. ncbi request reprint Nuclear genes and oxidative phosphorylation disorders: a review
    J A Smeitink
    Department of Paediatrics, University Medical Centre Nijmegen, The Netherlands
    Eur J Pediatr 159:S227-31. 2000
  6. ncbi request reprint Mitochondrial oxidative phosphorylation system assembly in man: recent achievements
    M J Coenen
    Department of Paediatrics, Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Curr Opin Neurol 14:777-81. 2001
  7. ncbi request reprint The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
    R Triepels
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital, Department of Pediatrics, The Netherlands
    Hum Genet 103:557-63. 1998
  8. ncbi request reprint The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital, The Netherlands
    J Inherit Metab Dis 22:19-28. 1999
  9. ncbi request reprint Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I
    J Smeitink
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children s Hospital Nijmegen, The Netherlands
    Hum Genet 103:245-50. 1998
  10. pmc The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
    J Loeffen
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, The Netherlands
    Am J Hum Genet 63:1598-608. 1998

Collaborators

Detail Information

Publications26

  1. ncbi request reprint The genetics and pathology of oxidative phosphorylation
    J Smeitink
    Nijmegen Centre for Mitochondrial Disorders, Department of Paediatrics, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Nat Rev Genet 2:342-52. 2001
    ..Advances in this arena have profited from progress in various genome projects, as well as improvements in our ability to create relevant animal models...
  2. ncbi request reprint Human NADH:ubiquinone oxidoreductase
    J Smeitink
    Nijmegen Center for Mitochondrial Disorders at the Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
    J Bioenerg Biomembr 33:259-66. 2001
    ..Here, we describe the enzymic methods we use and the recent progress made in genomics and cell biology of human complex I...
  3. ncbi request reprint Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene
    O Grafakou
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Medical Center Nijmegen, The Netherlands
    J Inherit Metab Dis 26:593-600. 2003
    ..Exercise intolerance and muscle pain in otherwise normal children warrants further mitochondrial evaluation...
  4. pmc Human mitochondrial complex I in health and disease
    J Smeitink
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen, The Netherlands
    Am J Hum Genet 64:1505-10. 1999
  5. ncbi request reprint Nuclear genes and oxidative phosphorylation disorders: a review
    J A Smeitink
    Department of Paediatrics, University Medical Centre Nijmegen, The Netherlands
    Eur J Pediatr 159:S227-31. 2000
    ..By now, a limited number of structural and non-structural nuclear gene defects have been found...
  6. ncbi request reprint Mitochondrial oxidative phosphorylation system assembly in man: recent achievements
    M J Coenen
    Department of Paediatrics, Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Curr Opin Neurol 14:777-81. 2001
    ..In this review, we summarize our current knowledge about human oxidative phosphorylation system assembly genes in health and disease...
  7. ncbi request reprint The nuclear-encoded human NADH:ubiquinone oxidoreductase NDUFA8 subunit: cDNA cloning, chromosomal localization, tissue distribution, and mutation detection in complex-I-deficient patients
    R Triepels
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital, Department of Pediatrics, The Netherlands
    Hum Genet 103:557-63. 1998
    ..The allelic frequency of both polymorphisms was similar in controls and complex-I-deficient patients...
  8. ncbi request reprint The human NADH: ubiquinone oxidoreductase NDUFS5 (15 kDa) subunit: cDNA cloning, chromosomal localization, tissue distribution and the absence of mutations in isolated complex I-deficient patients
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital, The Netherlands
    J Inherit Metab Dis 22:19-28. 1999
    ..A mutation detection study of twenty isolated enzymatic complex I-deficient patients revealed no mutations, nor polymorphisms...
  9. ncbi request reprint Molecular characterization and mutational analysis of the human B17 subunit of the mitochondrial respiratory chain complex I
    J Smeitink
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children s Hospital Nijmegen, The Netherlands
    Hum Genet 103:245-50. 1998
    ..Of these, kidney showed the highest expression. Mutational analysis of the subunit revealed no mutations or polymorphisms in 20 patients with isolated enzymatic complex I deficiency in cultured skin fibroblasts...
  10. pmc The first nuclear-encoded complex I mutation in a patient with Leigh syndrome
    J Loeffen
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, The Netherlands
    Am J Hum Genet 63:1598-608. 1998
    ..In the 19 other patients with enzymatic complex I deficiency, no mutations were found in the NDUFS8 cDNA. This article describes the first molecular genetic link between a nuclear-encoded subunit of complex I and Leigh syndrome...
  11. ncbi request reprint Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, The Netherlands
    Ann Neurol 49:195-201. 2001
    ....
  12. ncbi request reprint cDNA sequence and chromosomal localization of the remaining three human nuclear encoded iron sulphur protein (IP) subunits of complex I: the human IP fraction is completed
    J Loeffen
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital Nijmegen, The Netherlands
    Biochem Biophys Res Commun 247:751-8. 1998
    ....
  13. ncbi request reprint The human nuclear-encoded acyl carrier subunit (NDUFAB1) of the mitochondrial complex I in human pathology
    R Triepels
    Nijmegen Center for Mitochondrial Disorders, University Children s Hospital, Department of Pediatrics, The Netherlands
    J Inherit Metab Dis 22:163-73. 1999
    ..No mutations in the NDUFAB1 open reading frame were observed. Future studies will answer whether mutations in the NDUFAB1 promoter or transcription elements are responsible for the observed complex I deficiency...
  14. ncbi request reprint Characterization of the human complex I NDUFB7 and 17.2-kDa cDNAs and mutational analysis of 19 genes of the HP fraction in complex I-deficient-patients
    R Triepels
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, The Netherlands
    Hum Genet 106:385-91. 2000
    ..Other strategies are needed to unravel proteins involved in the pathogenesis of the complicated cellular network of transcription until correct assemblage of complex I...
  15. ncbi request reprint The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases
    L van den Heuvel
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Centre Nijmegen, The Netherlands
    Bioessays 23:518-25. 2001
    ..This knowledge is indispensable for accurate genetic counseling and prenatal diagnosis, and is a prerequisite for the development of rational therapies, which are still, at present, woefully inadequate...
  16. ncbi request reprint Fumarase deficiency presenting with periventricular cysts
    J Loeffen
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    J Inherit Metab Dis 28:799-800. 2005
    ..The patient was a compound heterozygote for two mutations that are the only ones among the 12 published mutations that have been found in multiple, unrelated, fumarase-deficient patients...
  17. ncbi request reprint Prerequisites and strategies for prenatal diagnosis of respiratory chain deficiency in chorionic villi
    L Niers
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, The Netherlands
    J Inherit Metab Dis 26:647-58. 2003
    ..We expect prenatal diagnosis at the molecular level to become more feasible in time as the mutational spectrum broadens with advances in medical research...
  18. ncbi request reprint Cloning of the human mitochondrial 51 kDa subunit (NDUFV1) reveals a 100% antisense homology of its 3'UTR with the 5'UTR of the gamma-interferon inducible protein (IP-30) precursor: is this a link between mitochondrial myopathy and inflammation?
    M Schuelke
    Department of Paediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, The Netherlands
    Biochem Biophys Res Commun 245:599-606. 1998
    ..This finding could be a molecular link between complex I deficiency and inflammatory myopathy which have been repeatedly described to occur together...
  19. pmc Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit
    L van den Heuvel
    Department of Pediatrics, University Hospital, Nijmegen, The Netherlands
    Am J Hum Genet 62:262-8. 1998
    ..The child's parents were heterozygous for the mutation. In 19 other complex I-deficient patients, no mutations were found in the 18-kD gene...
  20. doi request reprint Mitochondrial medicine: entering the era of treatment
    S Koene
    Radboud University Nijmegen Medical Centre, Nijmegen Centre for Mitochondrial Disorders, Nijmegen, The Netherlands
    J Intern Med 265:193-209. 2009
    ..We review the state of the art of the development of mitochondrial treatment strategies and discuss what steps need to be taken to efficiently approach the huge burden of disease caused by dysfunctional mitochondria...
  21. ncbi request reprint Tall stature and progressive overweight in mitochondrial encephalopathy
    E Morava
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, UMC Nijmegen, The Netherlands
    J Inherit Metab Dis 26:720-2. 2003
    ..Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation...
  22. pmc Cloning of the human carnitine-acylcarnitine carrier cDNA and identification of the molecular defect in a patient
    M Huizing
    University Hospital Nijmegen, Department of Pediatrics, The Netherlands
    Am J Hum Genet 61:1239-45. 1997
    ..This insertion provokes a frameshift and an extension of the open reading frame with 23 novel codons. This is the first report documenting a mutation, in the CAC cDNA, responsible for mitochondrial beta-oxidation impairment...
  23. pmc Mitochondrial disease: needs and problems of children, their parents and family. A systematic review and pilot study into the need for information of parents during the diagnostic phase
    G Noorda
    University Children s Hospital, Radboud University Nijmegen Medical Centre, 432 CUKZ, P O Box 9101, 6500 HB, Nijmegen, The Netherlands
    J Inherit Metab Dis 30:333-40. 2007
    ..The second aim is to provide more insight into the need for information by the parents of these children during the diagnostic process while in hospital...
  24. ncbi request reprint Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
    R H Triepels
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children s Hospital, The Netherlands
    Ann Neurol 45:787-90. 1999
    ..We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I-deficient Leigh syndrome...
  25. ncbi request reprint Human mitochondrial transmembrane metabolite carriers: tissue distribution and its implication for mitochondrial disorders
    M Huizing
    Department of Pediatrics, University Hospital, Nijmegen, The Netherlands
    J Bioenerg Biomembr 30:277-84. 1998
    ..Patient's studies showed that cultured skin fibroblasts may not be a reliable alternative for skeletal muscle in screening for human mitochondrial carrier defects...
  26. ncbi request reprint Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
    R H Triepels
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen St Radboud, 6500 HB Nijmegen, The Netherlands
    J Biol Chem 276:8892-7. 2001
    ..Furthermore, different mutations in the same gene are shown to give very similar subunit profiles, and we show that one of the patients is a good candidate for having a defect in a Complex I assembly factor...