| scholarly article | Q13442814 |
| P2093 | author name string | Eric A Shoubridge | |
| Nancy G Kennaway | |||
| Isla Ogilvie | |||
| P2860 | cites work | The first nuclear-encoded complex I mutation in a patient with Leigh syndrome | Q22008460 |
| SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome | Q22008476 | ||
| 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 | Q24290836 | ||
| CIA30 complex I assembly factor: a candidate for human complex I deficiency? | Q24293311 | ||
| Mutant NDUFV2 subunit of mitochondrial complex I causes early onset hypertrophic cardiomyopathy and encephalopathy | Q24302105 | ||
| NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency | Q24304313 | ||
| Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency | Q24306549 | ||
| 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 | Q24309157 | ||
| Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency | Q24317097 | ||
| Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency | Q24533500 | ||
| Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics | Q24541342 | ||
| Gapped BLAST and PSI-BLAST: a new generation of protein database search programs | Q24545170 | ||
| Subacute necrotizing encephalomyelopathy in an infant | Q24564004 | ||
| Mutant NDUFS3 subunit of mitochondrial complex I causes Leigh syndrome | Q24672488 | ||
| Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiency | Q28137735 | ||
| The nuclear encoded subunits of complex I from bovine heart mitochondria | Q28183992 | ||
| Cytochrome c oxidase deficiency | Q28189586 | ||
| 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 | Q28204082 | ||
| Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter | Q28218053 | ||
| Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy | Q28646237 | ||
| Human NADH:ubiquinone oxidoreductase | Q28646241 | ||
| Computational method to predict mitochondrially imported proteins and their targeting sequences | Q29547581 | ||
| Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form | Q29619372 | ||
| Three-dimensional structure of bovine NADH:ubiquinone oxidoreductase (complex I) at 22 A in ice. | Q32065329 | ||
| Subunit composition of mitochondrial complex I from the yeast Yarrowia lipolytica. | Q33205305 | ||
| Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I. | Q33864258 | ||
| Tracing the evolution of a large protein complex in the eukaryotes, NADH:ubiquinone oxidoreductase (Complex I). | Q34412787 | ||
| Biogenesis of respiratory complex I. | Q34429375 | ||
| Modular evolution of the respiratory NADH:ubiquinone oxidoreductase and the origin of its modules | Q34439351 | ||
| Involvement of two novel chaperones in the assembly of mitochondrial NADH:Ubiquinone oxidoreductase (complex I). | Q34474891 | ||
| Génolevures: comparative genomics and molecular evolution of hemiascomycetous yeasts | Q34932996 | ||
| Mitochondrial disorders: prevalence, myths and advances. | Q35800518 | ||
| Molecular genetics of complex I-deficient Chinese hamster cell lines | Q35970198 | ||
| Redesign of retrovirus packaging cell lines to avoid recombination leading to helper virus production | Q36918698 | ||
| A novel Myc-target gene, mimitin, that is involved in cell proliferation of esophageal squamous cell carcinoma. | Q40445617 | ||
| MITOPRED: a web server for the prediction of mitochondrial proteins | Q41010609 | ||
| Expression of the E6 and E7 genes of human papillomavirus (HPV16) extends the life span of human myoblasts | Q42817783 | ||
| Analysis of the subunit composition of complex I from bovine heart mitochondria | Q44367201 | ||
| Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency | Q44588150 | ||
| Significance of respirasomes for the assembly/stability of human respiratory chain complex I. | Q47316196 | ||
| Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy | Q47979553 | ||
| Human mitochondrial complex I assembles through the combination of evolutionary conserved modules: a framework to interpret complex I deficiencies. | Q50488580 | ||
| Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions. | Q50515893 | ||
| Quantification of muscle mitochondrial oxidative phosphorylation enzymes via histochemical staining of blue native polyacrylamide gels. | Q50526094 | ||
| Analysis of oxidative phosphorylation complexes in cultured human fibroblasts and amniocytes by blue-native-electrophoresis using mitoplasts isolated with the help of digitonin. | Q50757313 | ||
| Resolution of the Membrane Domain of Bovine Complex I into Subcomplexes: Implications for the Structural Organization of the Enzyme | Q63372103 | ||
| Phenotypic variation in leukoencephalopathy with vanishing white matter | Q77114396 | ||
| P433 | issue | 10 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | molecular chaperones | Q422496 |
| mitochondrion | Q39572 | ||
| P304 | page(s) | 2784-2792 | |
| P577 | publication date | 2005-10-01 | |
| P1433 | published in | Journal of Clinical Investigation | Q3186904 |
| P1476 | title | A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy | |
| P478 | volume | 115 |
| Q38769102 | A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II. |
| Q53075411 | A history of mitochondrial diseases. |
| Q24655079 | A mitochondrial protein compendium elucidates complex I disease biology |
| Q37774749 | A neurological perspective on mitochondrial disease. |
| Q34362913 | A three-dimensional topology of complex I inferred from evolutionary correlations. |
| Q35590231 | Accessory NUMM (NDUFS6) subunit harbors a Zn-binding site and is essential for biogenesis of mitochondrial complex I. |
| Q24298522 | Acyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex I |
| Q48171351 | An adverse outcome pathway for parkinsonian motor deficits associated with mitochondrial complex I inhibition. |
| Q64060822 | An update of the chemiosmotic theory as suggested by possible proton currents inside the coupling membrane |
| Q35547747 | An update on complex I assembly: the assembly of players |
| Q24683107 | Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I |
| Q37220086 | Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders |
| Q37340668 | Assembly factors for the membrane arm of human complex I. |
| Q56760543 | Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes |
| Q28708978 | Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases |
| Q57023932 | Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency |
| Q36796192 | Biochemical assays of respiratory chain complex activity |
| Q24305552 | C6ORF66 is an assembly factor of mitochondrial complex I |
| Q51733057 | Chapter 18 Analysis of respiratory chain complex assembly with radiolabeled nuclear- and mitochondrial-encoded subunits. |
| Q50597504 | Chapter 7 Tracing human mitochondrial complex I assembly by use of GFP-tagged subunits. |
| Q51733089 | Chapter 9 Reliable assay for measuring complex I activity in human blood lymphocytes and skin fibroblasts. |
| Q24319010 | Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I |
| Q56592348 | Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7 |
| Q26770152 | Combined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial disease |
| Q36548168 | Computational approaches for the prediction of protein function in the mitochondrion |
| Q37296169 | Crocetin protects against cardiac hypertrophy by blocking MEK-ERK1/2 signalling pathway |
| Q34189590 | DJ-1 null dopaminergic neuronal cells exhibit defects in mitochondrial function and structure: involvement of mitochondrial complex I assembly |
| Q36525893 | Detection and analysis of protein-protein interactions in organellar and prokaryotic proteomes by native gel electrophoresis: (Membrane) protein complexes and supercomplexes |
| Q28069775 | Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases |
| Q39338867 | Early complex I assembly defects result in rapid turnover of the ND1 subunit |
| Q24322772 | Effects of the novel mitochondrial protein mimitin in insulin-secreting cells |
| Q37307214 | Electrophoresis techniques to investigate defects in oxidative phosphorylation |
| Q37194604 | Eukaryotic complex I: functional diversity and experimental systems to unravel the assembly process |
| Q35751655 | Expanding the mitochondrial interactome. |
| Q34229297 | Expansion of biological pathways based on evolutionary inference |
| Q24300457 | FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy |
| Q48263242 | Genome-wide copy number variation analysis in attention-deficit/hyperactivity disorder: association with neuropeptide Y gene dosage in an extended pedigree |
| Q37424675 | Hallmarks of a new era in mitochondrial biochemistry |
| Q92029032 | High-resolution cryo-EM structures of respiratory complex I: Mechanism, assembly, and disease |
| Q34136223 | High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency |
| Q28661465 | Historical perspective on mitochondrial medicine |
| Q24676831 | Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease |
| Q36788822 | Human NADH:ubiquinone oxidoreductase deficiency: radical changes in mitochondrial morphology? |
| Q57175222 | Human diseases associated with defects in assembly of OXPHOS complexes |
| Q24315990 | Human ind1, an iron-sulfur cluster assembly factor for respiratory complex I |
| Q52313611 | Identification of homocysteine-suppressive mitochondrial ETC complex genes and tissue expression profile - Novel hypothesis establishment. |
| Q24338844 | Identification of mitochondrial complex I assembly intermediates by tracing tagged NDUFS3 demonstrates the entry point of mitochondrial subunits |
| Q40000489 | Inherited complex I deficiency is associated with faster protein diffusion in the matrix of moving mitochondria. |
| Q35110896 | Insights into the composition and assembly of the membrane arm of plant complex I through analysis of subcomplexes in Arabidopsis mutant lines. |
| Q31159565 | Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency |
| Q34612081 | Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients |
| Q38294181 | Key function for the CCAAT-binding factor Php4 to regulate gene expression in response to iron deficiency in fission yeast. |
| Q46361496 | L-galactono-1,4-lactone dehydrogenase is required for the accumulation of plant respiratory complex I. |
| Q31034830 | Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options |
| Q35135711 | Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I. |
| Q33424111 | Mimitin - a novel cytokine-regulated mitochondrial protein |
| Q34048532 | Mining yeast in silico unearths a golden nugget for mitochondrial biology |
| Q35190973 | Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors |
| Q98771688 | Mitochondrial Proteome of Affected Glutamatergic Neurons in a Mouse Model of Leigh Syndrome |
| Q33931142 | Mitochondrial complex I deficiency enhances skeletal myogenesis but impairs insulin signaling through SIRT1 inactivation |
| Q37958285 | Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes |
| Q37428322 | Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. |
| Q35868845 | Mitochondrial complex I plays an essential role in human respirasome assembly |
| Q36534792 | Mitochondrial complex I: structure, function and pathology |
| Q38249965 | Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency |
| Q26820866 | Mitochondrial disease in childhood: nuclear encoded |
| Q37890682 | Mitochondrial disorders caused by mutations in respiratory chain assembly factors |
| Q36444688 | Mitochondrial respiratory complex I: structure, function and implication in human diseases |
| Q21296841 | Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficiencies |
| Q56724743 | Mitoregulin: A lncRNA-Encoded Microprotein that Supports Mitochondrial Supercomplexes and Respiratory Efficiency |
| Q34327036 | Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews |
| Q24336408 | Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease |
| Q37218541 | Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency |
| Q24313044 | Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease |
| Q24294279 | Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1 |
| Q42006548 | NDUFA10 mutations cause complex I deficiency in a patient with Leigh disease |
| Q28282142 | NDUFA2 complex I mutation leads to Leigh disease |
| Q28117068 | NDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex I |
| Q28115826 | NDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex I |
| Q36203487 | Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases. |
| Q36849267 | Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and development |
| Q42591168 | Nonsense mutations in the COX1 subunit impair the stability of respiratory chain complexes rather than their assembly |
| Q36184704 | Novel MTND1 mutations cause isolated exercise intolerance, complex I deficiency and increased assembly factor expression. |
| Q42007494 | Novel insights into the role of Neurospora crassa NDUFAF2, an evolutionarily conserved mitochondrial complex I assembly factor. |
| Q47988632 | Nutritional Interventions for Mitochondrial OXPHOS Deficiencies: Mechanisms and Model Systems. |
| Q46789094 | OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion |
| Q37412986 | Pathogenic mutations of nuclear genes associated with mitochondrial disorders |
| Q33520083 | Phylogenomics of the oxidative phosphorylation in fungi reveals extensive gene duplication followed by functional divergence |
| Q34893444 | Pioglitazone leads to an inactivation and disassembly of complex I of the mitochondrial respiratory chain |
| Q36834546 | Practical and theoretical advances in predicting the function of a protein by its phylogenetic distribution |
| Q28579972 | Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) gene |
| Q35613167 | Redefining the roles of mitochondrial DNA-encoded subunits in respiratory Complex I assembly |
| Q41895323 | Region-specific expression of mitochondrial complex I genes during murine brain development |
| Q41967722 | Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells |
| Q92489077 | Respiratory supercomplexes act as a platform for complex III-mediated maturation of human mitochondrial complexes I and IV |
| Q34037432 | Respiratory supercomplexes: structure, function and assembly |
| Q57987777 | Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene |
| Q33299162 | Supramolecular organization of the respiratory chain in Neurospora crassa mitochondria |
| Q35427460 | The Mitochondrial Proteome and Human Disease |
| Q39545676 | The antioxidant Trolox restores mitochondrial membrane potential and Ca2+ -stimulated ATP production in human complex I deficiency |
| Q27728099 | The architecture of respiratory supercomplexes |
| Q28115372 | The arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesis |
| Q37560946 | The genetics and pathology of mitochondrial disease. |
| Q33608204 | The in-depth evaluation of suspected mitochondrial disease |
| Q36731321 | The iron-sulphur protein Ind1 is required for effective complex I assembly |
| Q38222864 | The mitochondrial complex I of trypanosomatids--an overview of current knowledge |
| Q28588745 | The mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stress |
| Q37902119 | The molecular basis of human complex I deficiency. |
| Q34163172 | The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple families |
| Q63256319 | The unique neuroradiology of complex I deficiency due to NDUFA12L defect |
| Q35601965 | Unraveling the molecular signatures of oxidative phosphorylation to cope with the nutritionally changing metabolic capabilities of liver and muscle tissues in farmed fish. |
| Q37716670 | Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder |
| Q35687142 | Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies |
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