Mitochondrial complex I: Structure, function and pathology

[1]  J. Xie,et al.  Parkinson's Disease Brain Mitochondrial Complex I Has Oxidatively Damaged Subunits and Is Functionally Impaired and Misassembled , 2006, The Journal of Neuroscience.

[2]  C. Geula,et al.  Mitochondrial DNA deletions are abundant and cause functional impairment in aged human substantia nigra neurons , 2006, Nature Genetics.

[3]  Robert W. Taylor,et al.  High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease , 2006, Nature Genetics.

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

[5]  M. Sharpley,et al.  Interactions between phospholipids and NADH:ubiquinone oxidoreductase (complex I) from bovine mitochondria. , 2006, Biochemistry.

[6]  Massimo Zeviani,et al.  Mitochondrial medicine: a metabolic perspective on the pathology of oxidative phosphorylation disorders. , 2006, Cell metabolism.

[7]  E. Rugarli,et al.  The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria , 2005, Cell.

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

[9]  Rutger O. Vogel,et al.  Human mitochondrial complex I assembly is mediated by NDUFAF1 , 2005, The FEBS journal.

[10]  J. Cronan,et al.  Mammalian mitochondria contain a soluble acyl carrier protein , 2005, FEBS letters.

[11]  Tomoko Ohnishi,et al.  Conformation‐driven and semiquinone‐gated proton‐pump mechanism in the NADH‐ubiquinone oxidoreductase (complex I) , 2005, FEBS letters.

[12]  E. Leshinsky‐Silver,et al.  Fulminant neurological deterioration in a neonate with Leigh syndrome due to a maternally transmitted missense mutation in the mitochondrial ND3 gene. , 2005, Biochemical and biophysical research communications.

[13]  L. Sazanov,et al.  Organization of Iron-Sulfur Clusters in Respiratory Complex I , 2005, Science.

[14]  J. Mazat,et al.  Identification of tyrosine-phosphorylated proteins of the mitochondrial oxidative phosphorylation machinery , 2005, Cellular and Molecular Life Sciences CMLS.

[15]  H. Fujita,et al.  A Novel Myc-target Gene, mimitin, That Is Involved in Cell Proliferation of Esophageal Squamous Cell Carcinoma* , 2005, Journal of Biological Chemistry.

[16]  M. Huynen,et al.  Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I). , 2005, Journal of molecular biology.

[17]  Robert W. Taylor,et al.  LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation , 2005, European Journal of Human Genetics.

[18]  B. Gibson,et al.  Mass spectrometric identification of a novel phosphorylation site in subunit NDUFA10 of bovine mitochondrial complex I , 2005, FEBS letters.

[19]  S. Dimauro,et al.  Mitochondrial encephalomyopathies: an update , 2005, Neuromuscular Disorders.

[20]  J. Arenas,et al.  Leigh syndrome associated with mitochondrial complex I deficiency due to a novel mutation in the NDUFS1 gene. , 2005, Archives of neurology.

[21]  S. Dimauro,et al.  Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF. , 2005, Archives of neurology.

[22]  J. Parks,et al.  Mitochondrial ND5 mutations in idiopathic Parkinson's disease. , 2005, Biochemical and biophysical research communications.

[23]  H. Budka,et al.  Neuropathology of white matter disease in Leber's hereditary optic neuropathy. , 2004, Brain : a journal of neurology.

[24]  R. Laframboise,et al.  NADH-coenzyme Q reductase (complex I) deficiency: heterogeneity in phenotype and biochemical findings , 1996, Journal of Inherited Metabolic Disease.

[25]  B. Barbiroli,et al.  The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. , 2005, Annals of neurology.

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

[27]  S. Nanko,et al.  Mitochondrial DNA 3644T-->C mutation associated with bipolar disorder. , 2004, Genomics.

[28]  C. Remacle,et al.  Structural organization of mitochondrial human complex I: role of the ND4 and ND5 mitochondria-encoded subunits and interaction with prohibitin. , 2004, The Biochemical journal.

[29]  Rutger O. Vogel,et al.  Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. , 2004, Human molecular genetics.

[30]  D. Turnbull,et al.  Mutations of the mitochondrial ND1 gene as a cause of MELAS , 2004, Journal of Medical Genetics.

[31]  J. Belmont,et al.  Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease , 2004, Pediatrics.

[32]  Q. Zeng,et al.  GRIM-19, a Cell Death Regulatory Protein, Is Essential for Assembly and Function of Mitochondrial Complex I , 2004, Molecular and Cellular Biology.

[33]  S. Nanko,et al.  Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder in Japanese and the National Institute of Mental Health pedigrees , 2004, Biological Psychiatry.

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

[35]  M. Bauer,et al.  Significance of Respirasomes for the Assembly/Stability of Human Respiratory Chain Complex I* , 2004, Journal of Biological Chemistry.

[36]  N. Yadava,et al.  The role of the ESSS protein in the assembly of a functional and stable mammalian mitochondrial complex I (NADH-ubiquinone oxidoreductase). , 2004, European journal of biochemistry.

[37]  I. Fearnley,et al.  The Phosphorylation of Subunits of Complex I from Bovine Heart Mitochondria* , 2004, Journal of Biological Chemistry.

[38]  D. Wallace,et al.  Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations , 2004, Neurology.

[39]  Rutger O. Vogel,et al.  Complex I assembly: a puzzling problem , 2004, Current opinion in neurology.

[40]  E. Klein,et al.  Mitochondrial complex i subunits expression is altered in schizophrenia: a postmortem study , 2004, Biological Psychiatry.

[41]  C. Bruno,et al.  Respiratory complex III is required to maintain complex I in mammalian mitochondria. , 2004, Molecular cell.

[42]  N. Yadava,et al.  Development and Characterization of a Conditional Mitochondrial Complex I Assembly System* , 2004, Journal of Biological Chemistry.

[43]  J. Smeitink,et al.  Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency. , 2004, Human molecular genetics.

[44]  M. Finel,et al.  Assembly of Respiratory Complexes I, III, and IV into NADH Oxidase Supercomplex Stabilizes Complex I in Paracoccus denitrificans* , 2004, Journal of Biological Chemistry.

[45]  N. Bresolin,et al.  A New Mitochondrial DNA Mutation in ND3 Gene Causing Severe Leigh Syndrome with Early Lethality , 2004, Pediatric Research.

[46]  B. Böttcher,et al.  The gross structure of the respiratory complex I: a Lego System. , 2004, Biochimica et biophysica acta.

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

[48]  A. Schapira.  Primary and secondary defects of the mitochondrial respiratory chain , 2002, Journal of Inherited Metabolic Disease.

[49]  T. Lisowsky,et al.  Different respiratory-defective phenotypes of Neurospora crassa and Saccharomyces cerevisiae after inactivation of the gene encoding the mitochondrial acyl carrier protein , 1995, Current Genetics.

[50]  J. Smeitink,et al.  Function and dysfunction of the oxidative phosphorylation system , 2004 .

[51]  A. Ballabio,et al.  Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia , 2003, The Journal of cell biology.

[52]  V. Petruzzella,et al.  Pathological Mutations of the Human NDUFS4 Gene of the 18-kDa (AQDQ) Subunit of Complex I Affect the Expression of the Protein and the Assembly and Function of the Complex* , 2003, Journal of Biological Chemistry.

[53]  K. Majamaa,et al.  Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene , 2003, Annals of neurology.

[54]  E. Shoubridge,et al.  Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency* , 2003, Journal of Biological Chemistry.

[55]  L. Sazanov,et al.  The Location of NuoL and NuoM Subunits in the Membrane Domain of the Escherichia coli Complex I , 2003, Journal of Biological Chemistry.

[56]  Dominic Thyagarajan,et al.  Low mutant load of mitochondrial DNA G13513A mutation can cause Leigh's disease , 2003, Annals of neurology.

[57]  Wayne F. Patton,et al.  Analysis of Steady-state Protein Phosphorylation in Mitochondria Using a Novel Fluorescent Phosphosensor Dye* , 2003, Journal of Biological Chemistry.

[58]  J. Hirst,et al.  The nuclear encoded subunits of complex I from bovine heart mitochondria. , 2003, Biochimica et biophysica acta.

[59]  S. Nanko,et al.  Association of mitochondrial complex I subunit gene NDUFV2 at 18p11 with bipolar disorder , 2003, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

[60]  U. Brandt,et al.  Proton pumping by NADH:ubiquinone oxidoreductase. A redox driven conformational change mechanism? , 2003, FEBS letters.

[61]  G. Comi,et al.  A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome , 2003, Neurology.

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

[63]  I. Fearnley,et al.  A Role for Native Lipids in the Stabilization and Two-dimensional Crystallization of the Escherichia coli NADH-Ubiquinone Oxidoreductase (Complex I)* , 2003, Journal of Biological Chemistry.

[64]  P. Rustin,et al.  A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis , 2003, Human Genetics.

[65]  Steven W. Taylor,et al.  The Subunit Composition of the Human NADH Dehydrogenase Obtained by Rapid One-step Immunopurification* , 2003, The Journal of Biological Chemistry.

[66]  P. Bénit,et al.  Genotyping microsatellite DNA markers at putative disease loci in inbred/multiplex families with respiratory chain complex I deficiency allows rapid identification of a novel nonsense mutation (IVS1nt −1) in the NDUFS4 gene in Leigh syndrome , 2003, Human Genetics.

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

[68]  John E. Walker,et al.  Definition of the Nuclear Encoded Protein Composition of Bovine Heart Mitochondrial Complex I , 2002, The Journal of Biological Chemistry.

[69]  H. Schägger.  Respiratory chain supercomplexes of mitochondria and bacteria. , 2002, Biochimica et biophysica acta.

[70]  M. Duarte,et al.  From NADH to ubiquinone in Neurospora mitochondria. , 2002, Biochimica et biophysica acta.

[71]  Erin N. Smith,et al.  Species-specific and Mutant MWFE Proteins , 2002, The Journal of Biological Chemistry.

[72]  B. Böttcher,et al.  A Novel, Enzymatically Active Conformation of theEscherichia coli NADH:Ubiquinone Oxidoreductase (Complex I)* , 2002, The Journal of Biological Chemistry.

[73]  V. Petruzzella,et al.  Minireview: The NADH: Ubiquinone Oxidoreductase (Complex I) of the Mammalian Respiratory Chain and the cAMP Cascade , 2002, Journal of bioenergetics and biomembranes.

[74]  Robert W Taylor,et al.  Leigh disease associated with a novel mitochondrial DNA ND5 mutation , 2002, European Journal of Human Genetics.

[75]  J. Smeitink,et al.  CIA30 complex I assembly factor: a candidate for human complex I deficiency? , 2002, Human Genetics.

[76]  E. Starikovskaya,et al.  The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J , 2002, Human Genetics.

[77]  M. Runswick,et al.  GRIM-19, a Cell Death Regulatory Gene Product, Is a Subunit of Bovine Mitochondrial NADH:Ubiquinone Oxidoreductase (Complex I)* , 2001, The Journal of Biological Chemistry.

[78]  T. Rosenberg,et al.  An mtDNA mutation, 14453G→A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome , 2001, European Journal of Human Genetics.

[79]  T. Sherer,et al.  Complex I and Parkinson's Disease , 2001, IUBMB life.

[80]  A. Munnich,et al.  A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure , 2001, Nature Genetics.

[81]  U. Schulte.  Biogenesis of Respiratory Complex I , 2001, Journal of bioenergetics and biomembranes.

[82]  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.

[83]  A. Chomyn.  Mitochondrial Genetic Control of Assembly and Function of Complex I in Mammalian Cells , 2001, Journal of bioenergetics and biomembranes.

[84]  T. Friedrich.  Complex I: A Chimaera of a Redox and Conformation-Driven Proton Pump? , 2001, Journal of bioenergetics and biomembranes.

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

[86]  N. Cairns,et al.  The reduction of NADH ubiquinone oxidoreductase 24- and 75-kDa subunits in brains of patients with Down syndrome and Alzheimer's disease. , 2001, Life sciences.

[87]  S. Dimauro,et al.  The genetics and pathology of oxidative phosphorylation , 2001, Nature Reviews Genetics.

[88]  V. Petruzzella,et al.  A nonsense mutation in the NDUFS4 gene encoding the 18 kDa (AQDQ) subunit of complex I abolishes assembly and activity of the complex in a patient with Leigh-like syndrome. , 2001, Human molecular genetics.

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

[90]  D. Turnbull,et al.  The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy. , 2001, Brain : a journal of neurology.

[91]  P. Shapiro,et al.  Identification of GRIM-19, a Novel Cell Death-regulatory Gene Induced by the Interferon-β and Retinoic Acid Combination, Using a Genetic Approach* , 2000, The Journal of Biological Chemistry.

[92]  J. Walker,et al.  Cryo-electron crystallography of two sub-complexes of bovine complex I reveals the relationship between the membrane and peripheral arms. , 2000, Journal of molecular biology.

[93]  L. V. D. Heuvel,et al.  Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene. , 2000, Biochemical and biophysical research communications.

[94]  M. Radermacher,et al.  Biophysical and structural characterization of proton-translocating NADH-dehydrogenase (complex I) from the strictly aerobic yeast Yarrowia lipolytica. , 2000, Biochimica et biophysica acta.

[95]  D. Reddihough,et al.  Leigh disease caused by the mitochondrial DNA G14459A mutation in unrelated families , 2000, Annals of neurology.

[96]  L. Grivell,et al.  Prohibitins act as a membrane‐bound chaperone for the stabilization of mitochondrial proteins , 2000, The EMBO journal.

[97]  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.

[98]  K. Pfeiffer,et al.  Supercomplexes in the respiratory chains of yeast and mammalian mitochondria , 2000, The EMBO journal.

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

[100]  A. Schapira,et al.  Mitochondrial respiratory chain disorders I: mitochondrial DNA defects , 2000, The Lancet.

[101]  I. Nelson,et al.  The mitochondrial DNA G13513A transition in ND5 is associated with a LHON/MELAS overlap syndrome and may be a frequent cause of MELAS , 1999, Annals of neurology.

[102]  A. Schapira,et al.  Mitochondrial myopathies and encephalomyopathies , 1999, European journal of clinical investigation.

[103]  B. Brors,et al.  A reductase/isomerase subunit of mitochondrial NADH:ubiquinone oxidoreductase (complex I) carries an NADPH and is involved in the biogenesis of the complex. , 1999, Journal of molecular biology.

[104]  N Grigorieff,et al.  Structure of the respiratory NADH:ubiquinone oxidoreductase (complex I) , 1999, Current opinion in structural biology.

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

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

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

[108]  R. Küffner,et al.  Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). , 1998, Journal of molecular biology.

[109]  G. Attardi,et al.  The mtDNA‐encoded ND6 subunit of mitochondrial NADH dehydrogenase is essential for the assembly of the membrane arm and the respiratory function of the enzyme , 1998, The EMBO journal.

[110]  A Videira,et al.  Complex I from the fungus Neurospora crassa. , 1998, Biochimica et biophysica acta.

[111]  N Grigorieff,et al.  Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice. , 1998, Journal of molecular biology.

[112]  N. Hattori,et al.  Genotype in the 24-kDa subunit gene (NDUFV2) of mitochondrial complex I and susceptibility to Parkinson disease. , 1998, Genomics.

[113]  J. Arenas,et al.  Complex I Defect in muscle from patients with Huntington's disease , 1998, Annals of neurology.

[114]  K. Leonard,et al.  Consistent structure between bacterial and mitochondrial NADH:ubiquinone oxidoreductase (complex I). , 1998, Journal of molecular biology.

[115]  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.

[116]  J. Lunardi,et al.  The NuoI subunit of the Rhodobacter capsulatus respiratory Complex I (equivalent to the bovine TYKY subunit) is required for proper assembly of the membraneous and peripheral domains of the enzyme. , 1997, European journal of biochemistry.

[117]  S. Dimauro,et al.  Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS. , 1997, Biochemical and biophysical research communications.

[118]  T. Friedrich,et al.  Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules. , 1997, Journal of theoretical biology.

[119]  B. Brors,et al.  Mitochondrial fatty acid synthesis: a relic of endosymbiontic origin and a specialized means for respiration , 1997, FEBS letters.

[120]  D. Wallace,et al.  Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia , 1996, Molecular and cellular biology.

[121]  J. Christodoulou,et al.  Leigh syndrome: Clinical features and biochemical and DNA abnormalities , 1996, Annals of neurology.

[122]  J. Walker,et al.  Structural analysis of NADH: ubiquinone oxidoreductase from bovine heart mitochondria. , 1995, Methods in enzymology.

[123]  U. Schulte,et al.  In vivo dissection of the mitochondrial respiratory NADH: ubiquinone oxidoreductase (complex I). , 1994, Biochimica et biophysica acta.

[124]  J. Walker,et al.  Sequences of 20 subunits of NADH:ubiquinone oxidoreductase from bovine heart mitochondria. Application of a novel strategy for sequencing proteins using the polymerase chain reaction. , 1992, Journal of molecular biology.

[125]  A. Torroni,et al.  Leber’s Hereditary Optic Neuropathy , 2022, Güncel Retina Dergisi (Current Retina Journal).

[126]  K. Leonard,et al.  Electron microscopic analysis of the peripheral and membrane parts of mitochondrial NADH dehydrogenase (complex I). , 1991, Journal of molecular biology.

[127]  E. Krebs,et al.  Consensus sequences as substrate specificity determinants for protein kinases and protein phosphatases. , 1991, The Journal of biological chemistry.

[128]  Y. Hatefi.  The mitochondrial electron transport and oxidative phosphorylation system. , 1985, Annual review of biochemistry.

[129]  D. Leigh.  SUBACUTE NECROTIZING ENCEPHALOMYELOPATHY IN AN INFANT , 1951, Journal of neurology, neurosurgery, and psychiatry.