Cristina Ugalde

Summary

Affiliation: Radboud University Nijmegen Medical Centre
Country: The Netherlands

Publications

  1. ncbi request reprint X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
    Daniel Fernandez-Moreira
    Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
    Ann Neurol 61:73-83. 2007
  2. ncbi request reprint Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Mol Genet Metab 90:10-4. 2007
  3. ncbi request reprint Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Ann Neurol 54:665-9. 2003
  4. ncbi request reprint Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
    Marieke J H Coenen
    Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 351:2080-6. 2004
  5. ncbi request reprint Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 13:2461-72. 2004
  6. ncbi request reprint Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency
    Jan A M Smeitink
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Medical Center Nijmegen, The Netherlands
    Curr Neurovasc Res 1:29-40. 2004
  7. ncbi request reprint Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands
    Hum Mol Genet 13:659-67. 2004
  8. ncbi request reprint Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
    Marieke J H Coenen
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Ann Neurol 56:560-4. 2004
  9. ncbi request reprint Complex I assembly: a puzzling problem
    Rutger Vogel
    Nijmegen Centre for Mitochondrial Disorders at the Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Curr Opin Neurol 17:179-86. 2004
  10. ncbi request reprint Human mitochondrial complex I assembly is mediated by NDUFAF1
    Rutger O Vogel
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Netherlands
    FEBS J 272:5317-26. 2005

Collaborators

Detail Information

Publications10

  1. ncbi request reprint X-linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy
    Daniel Fernandez-Moreira
    Centro de Investigacion, Hospital Universitario 12 de Octubre, Madrid, Spain
    Ann Neurol 61:73-83. 2007
    ..We investigated mutations in the X-chromosomal complex I structural genes, NDUFA1 and NDUFB11, as a novel cause of mitochondrial encephalomyopathy...
  2. ncbi request reprint Mutated ND2 impairs mitochondrial complex I assembly and leads to Leigh syndrome
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, Radboud University Nijmegen Medical Center, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands
    Mol Genet Metab 90:10-4. 2007
    ....
  3. ncbi request reprint Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Ann Neurol 54:665-9. 2003
    ....
  4. ncbi request reprint Mutant mitochondrial elongation factor G1 and combined oxidative phosphorylation deficiency
    Marieke J H Coenen
    Nijmegen Center for Mitochondrial Disorders, Radboud University Nijmegen Medical Center, Nijmegen, The Netherlands
    N Engl J Med 351:2080-6. 2004
    ..Sequencing of EFG1 revealed a mutation affecting a conserved residue of the guanosine triphosphate (GTP)-binding domain. These results define a new class of gene defects underlying disorders of oxidative phosphorylation...
  5. ncbi request reprint Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center Nijmegen, Geert Grooteplein 10, PO Box 9101, 6500 HB Nijmegen, The Netherlands
    Hum Mol Genet 13:2461-72. 2004
    ..Our results suggest that human complex I assembly resembles that of Neurospora crassa, in which a membrane arm is formed and assembled to a preformed peripheral arm, and support ideas about modular evolution...
  6. ncbi request reprint Cell biological consequences of mitochondrial NADH: ubiquinone oxidoreductase deficiency
    Jan A M Smeitink
    Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Medical Center Nijmegen, The Netherlands
    Curr Neurovasc Res 1:29-40. 2004
    ....
  7. ncbi request reprint Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency
    Cristina Ugalde
    Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Medical Center, Nijmegen, The Netherlands
    Hum Mol Genet 13:659-67. 2004
    ..This will help us to point more selectively to candidate genes for pathogenic mutations that could lead to an isolated complex I defect...
  8. ncbi request reprint Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene
    Marieke J H Coenen
    Department of Paediatrics, Nijmegen Centre for Mitochondrial Disorders, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Ann Neurol 56:560-4. 2004
    ..Overexpression of the COX10 protein in the patient's fibroblasts proved that the detected mutation was indeed the disease cause...
  9. ncbi request reprint Complex I assembly: a puzzling problem
    Rutger Vogel
    Nijmegen Centre for Mitochondrial Disorders at the Department of Paediatrics, University Medical Centre Nijmegen, Nijmegen, The Netherlands
    Curr Opin Neurol 17:179-86. 2004
    ..This review describes current understanding of complex I assembly, new developments and future perspectives...
  10. ncbi request reprint Human mitochondrial complex I assembly is mediated by NDUFAF1
    Rutger O Vogel
    Department of Paediatrics, Radboud University Nijmegen Medical Centre, Netherlands
    FEBS J 272:5317-26. 2005
    ..Based on these data, we propose that NDUFAF1 is an important protein for the assembly/stability of complex I...