A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome.

[1]  R. Rodenburg,et al.  NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease , 2011, European Journal of Human Genetics.

[2]  U. Brandt,et al.  Quinone binding and reduction by respiratory complex I. , 2010, Biochimica et biophysica acta.

[3]  Rutger O. Vogel,et al.  Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I. , 2010, Cell metabolism.

[4]  Robert W. Taylor,et al.  The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families , 2010, Brain : a journal of neurology.

[5]  R. Rodenburg.  Biochemical diagnosis of mitochondrial disorders , 2010, Journal of Inherited Metabolic Disease.

[6]  Rouslan G. Efremov,et al.  The architecture of respiratory complex I , 2010, Nature.

[7]  Rutger O. Vogel,et al.  Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease. , 2009, American journal of human genetics.

[8]  M. Radermacher,et al.  Architecture of complex I and its implications for electron transfer and proton pumping. , 2009, Biochimica et biophysica acta.

[9]  R. Rodenburg,et al.  Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. , 2008, Brain : a journal of neurology.

[10]  J. Smeitink,et al.  Electrophoresis techniques to investigate defects in oxidative phosphorylation. , 2008, Methods.

[11]  V. Mootha,et al.  Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease. , 2008, American journal of human genetics.

[12]  S. Carr,et al.  A Mitochondrial Protein Compendium Elucidates Complex I Disease Biology , 2008, Cell.

[13]  R. Rodenburg,et al.  NDUFA2 complex I mutation leads to Leigh disease. , 2008, American journal of human genetics.

[14]  Ann Saada,et al.  Mitochondrial complex I deficiency caused by a deleterious NDUFA11 mutation , 2008, Annals of neurology.

[15]  J. Smeitink,et al.  Life cell quantification of mitochondrial membrane potential at the single organelle level , 2008, Cytometry. Part A : the journal of the International Society for Analytical Cytology.

[16]  Ann Saada,et al.  C6ORF66 is an assembly factor of mitochondrial complex I. , 2008, American journal of human genetics.

[17]  U. Dillmann,et al.  A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy , 2007, Journal of Medical Genetics.

[18]  J. Silke,et al.  Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease , 2007, The EMBO journal.

[19]  R. Rodenburg,et al.  Spectrophotometric assay for complex I of the respiratory chain in tissue samples and cultured fibroblasts. , 2007, Clinical chemistry.

[20]  Rutger O. Vogel,et al.  Identification of Mitochondrial Complex I Assembly Intermediates by Tracing Tagged NDUFS3 Demonstrates the Entry Point of Mitochondrial Subunits* , 2007, Journal of Biological Chemistry.

[21]  Rutger O. Vogel,et al.  Cytosolic signaling protein Ecsit also localizes to mitochondria where it interacts with chaperone NDUFAF1 and functions in complex I assembly. , 2007, Genes & development.

[22]  R. Rodenburg,et al.  X‐linked NDUFA1 gene mutations associated with mitochondrial encephalomyopathy , 2007, Annals of neurology.

[23]  John E. Walker,et al.  Bovine Complex I Is a Complex of 45 Different Subunits* , 2006, Journal of Biological Chemistry.

[24]  M. L. Genova,et al.  Mitochondrial Complex I: structural and functional aspects. , 2006, Biochimica et biophysica acta.

[25]  J. Smeitink,et al.  Mitochondrial complex I: Structure, function and pathology , 2006, Journal of Inherited Metabolic Disease.

[26]  Todd A. Clason,et al.  The three-dimensional structure of complex I from Yarrowia lipolytica: a highly dynamic enzyme. , 2006, Journal of structural biology.

[27]  R. Rodenburg,et al.  Measurement of the energy-generating capacity of human muscle mitochondria: diagnostic procedure and application to human pathology. , 2006, Clinical chemistry.

[28]  Philip Hinchliffe,et al.  Structure of the Hydrophilic Domain of Respiratory Complex I from Thermus thermophilus , 2006, Science.

[29]  A. Leusink,et al.  Decreased agonist-stimulated mitochondrial ATP production caused by a pathological reduction in endoplasmic reticulum calcium content in human complex I deficiency. , 2006, Biochimica et biophysica acta.

[30]  E. Shoubridge,et al.  A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy. , 2005, The Journal of clinical investigation.

[31]  M. Zeviani,et al.  Clinical and molecular findings in children with complex I deficiency. , 2004, Biochimica et biophysica acta.

[32]  U. Brandt,et al.  Application of the yeast Yarrowia lipolytica as a model to analyse human pathogenic mutations in mitochondrial complex I (NADH:ubiquinone oxidoreductase). , 2004, Biochimica et biophysica acta.

[33]  Robert W. Taylor,et al.  NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency. , 2004, The Journal of clinical investigation.

[34]  P. Bénit,et al.  Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome , 2004, Journal of Medical Genetics.

[35]  P. Bénit,et al.  Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy , 2003, Human mutation.

[36]  J. Hirst,et al.  Analysis of the Subunit Composition of Complex I from Bovine Heart Mitochondria*S , 2003, Molecular & Cellular Proteomics.

[37]  Gert Vriend,et al.  Increasing the precision of comparative models with YASARA NOVA—a self‐parameterizing force field , 2002, Proteins.

[38]  N. Henderson,et al.  Blue Native electrophoresis to study mitochondrial and other protein complexes. , 2002, Methods.

[39]  J. Smeitink,et al.  Identification of non-structural complex I genes which are responsible for isolated mitochondrial complex I deficiency , 2002 .

[40]  P. Bénit,et al.  Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. , 2001, American journal of human genetics.

[41]  J. Smeitink,et al.  Human NADH:Ubiquinone Oxidoreductase , 2001, Journal of bioenergetics and biomembranes.

[42]  H. Mandel,et al.  Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy , 2001, Annals of neurology.

[43]  J. Walker,et al.  Resolution of the membrane domain of bovine complex I into subcomplexes: implications for the structural organization of the enzyme. , 2000, Biochemistry.

[44]  L. P. Van den Heuvel,et al.  Isolated complex I deficiency in children: Clinical, biochemical and genetic aspects , 2000, Human mutation.

[45]  P. Barth,et al.  Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I , 1999, Annals of neurology.

[46]  E. Mariman,et al.  Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy , 1999, Nature Genetics.

[47]  B. Hamel,et al.  The first nuclear-encoded complex I mutation in a patient with Leigh syndrome. , 1998, American journal of human genetics.

[48]  E. Mariman,et al.  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. , 1998, American journal of human genetics.

[49]  F. Gabreëls,et al.  Clinical heterogeneity in respiratory chain complex III deficiency in childhood , 1997, Journal of the Neurological Sciences.

[50]  G Vriend,et al.  WHAT IF: a molecular modeling and drug design program. , 1990, Journal of molecular graphics.

[51]  M. Danson,et al.  Citrate synthase. , 2020, Current topics in cellular regulation.

[52]  P. Srere,et al.  [1] Citrate synthase. [EC 4.1.3.7. Citrate oxaloacetate-lyase (CoA-acetylating)] , 1969 .

[53]  A. Lazarow,et al.  A microspectrophotometric method for the determination of cytochrome oxidase. , 1951, The Journal of biological chemistry.