| review article | Q7318358 |
| scholarly article | Q13442814 |
| P50 | author | Luisa Iommarini | Q57007368 |
| P2093 | author name string | Francisca Diaz | |
| Susana Peralta | |||
| Alessandra Torraco | |||
| P2860 | cites work | Progression of Parkinson's disease pathology is reproduced by intragastric administration of rotenone in mice | Q21142674 |
| Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene | Q22010737 | ||
| A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency | Q22253915 | ||
| 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 | ||
| Mammalian subunit IV isoforms of cytochrome c oxidase | Q24291142 | ||
| HIF-1 regulates cytochrome oxidase subunits to optimize efficiency of respiration in hypoxic cells | Q24302194 | ||
| Mutations in COX7B cause microphthalmia with linear skin lesions, an unconventional mitochondrial disease | Q24302215 | ||
| NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency | Q24304313 | ||
| Respiratory chain complex V deficiency due to a mutation in the assembly gene ATP12 | Q24306951 | ||
| Clinical heterogeneity in patients with mutations in the NDUFS4 gene of mitochondrial complex I | Q24307521 | ||
| 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 | ||
| TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy | Q24309170 | ||
| 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 | ||
| Cardiac manifestations in oxidative phosphorylation disorders of childhood | Q36768559 | ||
| Coenzyme Q10 supplementation rescues renal disease in Pdss2kd/kd mice with mutations in prenyl diphosphate synthase subunit 2 | Q36977423 | ||
| RETRACTED: Activation of the PPAR/PGC-1alpha pathway prevents a bioenergetic deficit and effectively improves a mitochondrial myopathy phenotype | Q37036533 | ||
| Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process | Q37101634 | ||
| Mouse models of oxidative phosphorylation dysfunction and disease | Q37120825 | ||
| Exocrine pancreatic insufficiency, dyserythropoeitic anemia, and calvarial hyperostosis are caused by a mutation in the COX4I2 gene | Q37156113 | ||
| IF1, a natural inhibitor of mitochondrial ATP synthase, is not essential for the normal growth and breeding of mice | Q37178253 | ||
| Mitochondrial complex I deficiency increases protein acetylation and accelerates heart failure | Q37189263 | ||
| Respiratory-chain diseases related to complex III deficiency | Q37207429 | ||
| Assembly of the oxidative phosphorylation system in humans: what we have learned by studying its defects | Q37213554 | ||
| NDUFS4: creation of a mouse model mimicking a Complex I disorder | Q37440629 | ||
| Complex I function and supercomplex formation are preserved in liver mitochondria despite progressive complex III deficiency. | Q37505861 | ||
| Biosynthesis and bioproduction of coenzyme Q10 by yeasts and other organisms | Q37521193 | ||
| Transmitochondrial mice as models for primary prevention of diseases caused by mutation in the tRNA(Lys) gene | Q37612665 | ||
| Assembly factors of human mitochondrial complex I and their defects in disease | Q37765531 | ||
| Mitochondrial disorders caused by mutations in respiratory chain assembly factors | Q37890682 | ||
| Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes | Q37958285 | ||
| The many clinical faces of cytochrome c oxidase deficiency | Q38021403 | ||
| In vivo inhibition of the mitochondrial H+-ATP synthase in neurons promotes metabolic preconditioning. | Q38972904 | ||
| Glycolytic oligodendrocytes maintain myelin and long-term axonal integrity | Q39492965 | ||
| Protein phosphorylation and prevention of cytochrome oxidase inhibition by ATP: coupled mechanisms of energy metabolism regulation | Q39530676 | ||
| Enhanced glycolysis induced by mtDNA mutations does not regulate metastasis | Q39937708 | ||
| Generation of trans-mitochondrial mice carrying homoplasmic mtDNAs with a missense mutation in a structural gene using ES cells. | Q40322749 | ||
| A Clinicopathologic Study of Autosomal Dominant Optic Atrophy | Q40727742 | ||
| Pathophysiology and fate of hepatocytes in a mouse model of mitochondrial hepatopathies | Q41919172 | ||
| Transmitochondrial mice carrying resistance to chloramphenicol on mitochondrial DNA: developing the first mouse model of mitochondrial DNA disease. | Q42812725 | ||
| Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency. | Q43047012 | ||
| Lack of cytochrome c in mouse fibroblasts disrupts assembly/stability of respiratory complexes I and IV. | Q43182550 | ||
| Deficiency in mitochondrial complex I activity due to Ndufs6 gene trap insertion induces renal disease. | Q43554437 | ||
| Maternally inherited diabetes and deafness: a multicenter study | Q43592578 | ||
| Mitochondrial electron transport is a key determinant of life span in Caenorhabditis elegans | Q43799857 | ||
| Identification and characterization of a common set of complex I assembly intermediates in mitochondria from patients with complex I deficiency | Q44588150 | ||
| Cytochrome b mutations in Leber hereditary optic neuropathy | Q44775364 | ||
| Transgenic mouse model of kidney disease: Insertional inactivation of ubiquitously expressed gene leads to nephrotic syndrome | Q44930684 | ||
| Clinical and molecular findings in children with complex I deficiency | Q45171157 | ||
| Deletion of heart-type cytochrome c oxidase subunit 7a1 impairs skeletal muscle angiogenesis and oxidative phosphorylation | Q45364270 | ||
| A novel mutation in NDUFS4 causes Leigh syndrome in an Ashkenazi Jewish family | Q45817648 | ||
| TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis. | Q46028195 | ||
| Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene | Q46768505 | ||
| Developmental regulation of cytochrome oxidase subunit VIa isoforms in cardiac and skeletal muscle | Q47630063 | ||
| Neuropathology of white matter disease in Leber's hereditary optic neuropathy | Q47912346 | ||
| Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy | Q48153107 | ||
| Mitochondrial ATP synthase deficiency due to a mutation in the ATP5E gene for the F1 epsilon subunit | Q24324788 | ||
| Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy | Q24328756 | ||
| A molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy | Q24536088 | ||
| COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness | Q24606103 | ||
| GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L | Q24617140 | ||
| A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease | Q24645475 | ||
| Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome | Q24675204 | ||
| Analysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex I | Q24683107 | ||
| Molecular architecture of the rotary motor in ATP synthase | Q27620502 | ||
| COQ9, a new gene required for the biosynthesis of coenzyme Q in Saccharomyces cerevisiae | Q27932465 | ||
| Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency | Q28140889 | ||
| 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 | Q28180532 | ||
| The nuclear encoded subunits of complex I from bovine heart mitochondria | Q28183992 | ||
| Cytochrome c oxidase deficiency | Q28189586 | ||
| A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis | Q28199158 | ||
| Subunits VIIa,b,c of human cytochrome c oxidase. Identification of both 'heart-type' and 'liver-type' isoforms of subunit VIIa in human heart | Q28208606 | ||
| Mitochondrial disorders in the nervous system | Q28272320 | ||
| The human cytochrome c oxidase assembly factors SCO1 and SCO2 have regulatory roles in the maintenance of cellular copper homeostasis | Q28280598 | ||
| Tissue-specific splicing of an Ndufs6 gene-trap insertion generates a mitochondrial complex I deficiency-specific cardiomyopathy | Q28505379 | ||
| Constitutive knockout of Surf1 is associated with high embryonic lethality, mitochondrial disease and cytochrome c oxidase deficiency in mice | Q28507157 | ||
| Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency | Q28512560 | ||
| Cytochrome c deficiency causes embryonic lethality and attenuates stress-induced apoptosis | Q28512752 | ||
| 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 | Q28579972 | ||
| The mitochondrial SDHD gene is required for early embryogenesis, and its partial deficiency results in persistent carotid body glomus cell activation with full responsiveness to hypoxia | Q28585455 | ||
| The GRACILE mutation introduced into Bcs1l causes postnatal complex III deficiency: a viable mouse model for mitochondrial hepatopathy | Q28586216 | ||
| Partial complex I deficiency due to the CNS conditional ablation of Ndufa5 results in a mild chronic encephalopathy but no increase in oxidative damage | Q28587077 | ||
| Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic development | Q28587981 | ||
| Dysfunctional Coq9 protein causes predominant encephalomyopathy associated with CoQ deficiency | Q28588893 | ||
| Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2 | Q28589741 | ||
| Specific ablation of the apoptotic functions of cytochrome C reveals a differential requirement for cytochrome C and Apaf-1 in apoptosis | Q28589907 | ||
| PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling | Q28593164 | ||
| A defect in the mitochondrial complex III, but not complex IV, triggers early ROS-dependent damage in defined brain regions. | Q30416049 | ||
| Mice with mitochondrial complex I deficiency develop a fatal encephalomyopathy | Q30484862 | ||
| A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy. | Q50463758 | ||
| Demyelinating polyneuropathy in a patient with the tRNA(Leu)(UUR) mutation at base pair 3243 of the mitochondrial DNA. | Q50519525 | ||
| Mesencephalic complex I deficiency does not correlate with parkinsonism in mitochondrial DNA maintenance disorders. | Q50869518 | ||
| Structural analysis of ATP synthase from bovine heart mitochondria. | Q54619734 | ||
| Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy | Q56863982 | ||
| A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and Hypertrichosis | Q56866594 | ||
| Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice | Q57042902 | ||
| Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiency | Q57251902 | ||
| Deletion of mitochondrial DNA in patient with chronic tubulointerstitial nephritis | Q59619364 | ||
| A catalytic defect in mitochondrial respiratory chain complex I due to a mutation in NDUFS2 in a patient with Leigh syndrome | Q62671215 | ||
| TMEM70 mutations are a common cause of nuclear encoded ATP synthase assembly defect: further delineation of a new syndrome | Q63256302 | ||
| Clinical heterogeneity in respiratory chain complex III deficiency in childhood | Q67208792 | ||
| Alterations of oligodendrocytes and demyelination in the spinal cord of patients with mitochondrial encephalomyopathy | Q67934252 | ||
| Congenital hypoplastic anemia, diabetes, and severe renal tubular dysfunction associated with a mitochondrial DNA deletion | Q68065726 | ||
| Generation of mice with mitochondrial dysfunction by introducing mouse mtDNA carrying a deletion into zygotes | Q73035349 | ||
| The kidney in mitochondrial cytopathies | Q73182916 | ||
| Prevalence of A-to-G mutation at nucleotide 3243 of the mitochondrial tRNA(Leu(UUR)) gene in Japanese patients with diabetes mellitus and end stage renal disease | Q73976641 | ||
| Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 gene | Q74177562 | ||
| A NATURALLY OCCURRING INHIBITOR OF MITOCHONDRIAL ADENOSINE TRIPHOSPHATASE | Q76693966 | ||
| Cardiac dysfunction in mice lacking cytochrome-c oxidase subunit VIaH | Q77481067 | ||
| Increased longevity and refractoriness to Ca(2+)-dependent neurodegeneration in Surf1 knockout mice | Q79518243 | ||
| Renal pathology in children with mitochondrial diseases | Q81886349 | ||
| Mitochondrial complex III stabilizes complex I in the absence of NDUFS4 to provide partial activity | Q85030067 | ||
| Improved insulin sensitivity associated with reduced mitochondrial complex IV assembly and activity | Q85653807 | ||
| Supernumerary subunits NDUFA3, NDUFA5 and NDUFA12 are required for the formation of the extramembrane arm of human mitochondrial complex I | Q87647030 | ||
| In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis | Q35089820 | ||
| Respiratory chain complex I deficiency caused by mitochondrial DNA mutations | Q35108601 | ||
| Leigh syndrome with nephropathy and CoQ10 deficiency due to decaprenyl diphosphate synthase subunit 2 (PDSS2) mutations | Q35221744 | ||
| Conservation of sequences of subunits of mitochondrial complex I and their relationships with other proteins | Q35535555 | ||
| Altered dopamine metabolism and increased vulnerability to MPTP in mice with partial deficiency of mitochondrial complex I in dopamine neurons | Q35750220 | ||
| Renal involvement in mitochondrial cytopathies | Q35783708 | ||
| Mice deleted for heart-type cytochrome c oxidase subunit 7a1 develop dilated cardiomyopathy. | Q35822926 | ||
| Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. | Q35845825 | ||
| CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders | Q35870630 | ||
| Teratocarcinoma cells as vehicles for introducing specific mutant mitochondrial genes into mice | Q35996280 | ||
| Specific mitochondrial DNA mutation in mice regulates diabetes and lymphoma development | Q36069084 | ||
| Fatal breathing dysfunction in a mouse model of Leigh syndrome | Q36070987 | ||
| Cytochrome c oxidase subunit 4 isoform 2-knockout mice show reduced enzyme activity, airway hyporeactivity, and lung pathology | Q36183717 | ||
| Mouse mtDNA mutant model of Leber hereditary optic neuropathy. | Q36471358 | ||
| The mitochondrial and kidney disease phenotypes of kd/kd mice under germfree conditions | Q36477875 | ||
| Tissue-specific oxidative stress and loss of mitochondria in CoQ-deficient Pdss2 mutant mice. | Q36534337 | ||
| Severe infantile encephalomyopathy caused by a mutation in COX6B1, a nucleus-encoded subunit of cytochrome c oxidase | Q36719089 | ||
| Impaired mitochondrial transport and Parkin-independent degeneration of respiratory chain-deficient dopamine neurons in vivo | Q30503280 | ||
| Sdhd and SDHD/H19 knockout mice do not develop paraganglioma or pheochromocytoma | Q30945414 | ||
| Primary coenzyme Q deficiency in Pdss2 mutant mice causes isolated renal disease | Q33330854 | ||
| A mutation of human cytochrome c enhances the intrinsic apoptotic pathway but causes only thrombocytopenia. | Q33378983 | ||
| Mutations of cytochrome c identified in patients with thrombocytopenia THC4 affect both apoptosis and cellular bioenergetics | Q33412034 | ||
| Etiology and pathogenesis of Parkinson's disease | Q33593402 | ||
| Succinate dehydrogenase - Assembly, regulation and role in human disease | Q33869389 | ||
| Complex I deficiency due to loss of Ndufs4 in the brain results in progressive encephalopathy resembling Leigh syndrome | Q33934412 | ||
| A yeast-based assay identifies drugs active against human mitochondrial disorders | Q33946234 | ||
| Bovine complex I is a complex of 45 different subunits. | Q33999203 | ||
| A mild impairment of mitochondrial electron transport has sex-specific effects on lifespan and aging in mice | Q34058380 | ||
| A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure. | Q34088669 | ||
| Specific elimination of mutant mitochondrial genomes in patient-derived cells by mitoTALENs | Q34127971 | ||
| Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b gene | Q34144271 | ||
| Testis-specific cytochrome c-null mice produce functional sperm but undergo early testicular atrophy | Q34284104 | ||
| Metabolism and function of coenzyme Q. | Q34294224 | ||
| Genetic defects of cytochrome c oxidase assembly. | Q34317653 | ||
| Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews | Q34327036 | ||
| Cytochrome c oxidase biogenesis in a patient with a mutation in COX10 gene. | Q34354144 | ||
| Biogenesis of cytochrome c oxidase | Q34455978 | ||
| Inborn errors of complex II--unusual human mitochondrial diseases | Q34501870 | ||
| Optic nerve degeneration and mitochondrial dysfunction: genetic and acquired optic neuropathies | Q34535175 | ||
| Missense mutations in the BCS1L gene as a cause of the Björnstad syndrome | Q34576053 | ||
| Post-transcriptional silencing and functional characterization of the Drosophila melanogaster homolog of human Surf1. | Q34587197 | ||
| Mice deficient in the respiratory chain gene Cox6a2 are protected against high-fat diet-induced obesity and insulin resistance | Q34608360 | ||
| A new mitochondrial disease associated with mitochondrial DNA heteroplasmy | Q34627393 | ||
| Transfer of chloramphenicol-resistant mitochondrial DNA into the chimeric mouse | Q34628957 | ||
| A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations | Q34628968 | ||
| Novel mutations in COX15 in a long surviving Leigh syndrome patient with cytochrome c oxidase deficiency | Q34650518 | ||
| Cytochrome c oxidase deficiency: patients and animal models | Q34659040 | ||
| COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement | Q34687106 | ||
| Loss of function of Sco1 and its interaction with cytochrome c oxidase | Q34964534 | ||
| Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1. | Q34972244 | ||
| Oligodendroglial differentiation induces mitochondrial genes and inhibition of mitochondrial function represses oligodendroglial differentiation | Q35056790 | ||
| P304 | page(s) | 76-91 | |
| P577 | publication date | 2015-02-04 | |
| P1433 | published in | Mitochondrion | Q2122381 |
| P1476 | title | Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors | |
| P478 | volume | 21 |
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