Defects in mitochondrial respiratory complexes III and IV, and human pathologies.

scientific article

Defects in mitochondrial respiratory complexes III and IV, and human pathologies. is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P356DOI10.1016/S0098-2997(02)00013-4
P698PubMed publication ID12231008

P2093author name stringVitaliy B Borisov
P2860cites workHeme deficiency selectively interrupts assembly of mitochondrial complex IV in human fibroblasts: revelance to agingQ74614648
Fatty acids as natural uncouplers preventing generation of O2.- and H2O2 by mitochondria in the resting stateQ77377987
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathyQ77568402
Heme/Copper Terminal OxidasesQ77646446
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuriaQ77813538
Spinal muscular atrophy-like picture, cardiomyopathy, and cytochrome c oxidase deficiencyQ77951839
SURF1, encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndromeQ22008476
Identification and characterization of human cDNAs specific to BCS1, PET112, SCO1, COX15, and COX11, five genes involved in the formation and function of the mitochondrial respiratory chainQ22008622
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly geneQ22010737
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiencyQ22253915
Ubiquinol-cytochrome-c reductase from human and bovine mitochondriaQ24321271
Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteinsQ24594335
The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 AQ27732721
Crystal structure of the cytochrome bc1 complex from bovine heart mitochondriaQ27739958
Bcs1p, an AAA-family member, is a chaperone for the assembly of the cytochrome bc(1) complex.Q27931821
A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuriaQ28115983
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathyQ28118731
Expression and functional analysis of SURF1 in Leigh syndrome patients with cytochrome c oxidase deficiencyQ28137735
Missense mutations in SURF1 associated with deficient cytochrome c oxidase assembly in Leigh syndrome patientsQ28140418
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiencyQ28140889
A mitochondrial cytochrome b mutation but no mutations of nuclearly encoded subunits in ubiquinol cytochrome c reductase (complex III) deficiencyQ28142495
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiencyQ28214123
Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA diseaseQ67950234
Progressive cytochrome c oxidase deficiency in a case of Leigh's encephalomyelopathyQ68459547
Cytochrome c oxidase deficiencyQ68488901
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNAQ69414414
de Toni-Fanconi-Debré syndrome with Leigh syndrome revealing severe muscle cytochrome c oxidase deficiencyQ69824858
A newborn infant with respiratory distress and persistent stridulous breathingQ69830696
Defects in the cytochrome bc1 complex in mitochondrial diseasesQ69834284
Ubisemiquinone is the electron donor for superoxide formation by complex III of heart mitochondriaQ70080329
Myopathy and fatal cardiopathy due to cytochrome c oxidase deficiencyQ70152990
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiencyQ70167731
Decreased cytochrome oxidase activity in hepatic mitochondria after chronic ethanol consumption and the possible role of decreased cytochrome aa3 content and changes in phospholipidsQ70189847
A novel gly290asp mitochondrial cytochrome b mutation linked to a complex III deficiency in progressive exercise intoleranceQ71763922
Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduriaQ72097479
Altered kinetics of cytochrome c oxidase in a patient with severe mitochondrial encephalomyopathyQ72184065
Immunohistochemical analysis of muscle cytochrome c oxidase deficiency in childrenQ72207091
Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and CQ72351955
Liver cytochrome c oxidase deficiency in a case of neonatal-onset hepatic failureQ72416019
Exercise intolerance due to mutations in the cytochrome b gene of mitochondrial DNAQ73031929
Biochemical, genetic and immunoblot analyses of 17 patients with an isolated cytochrome c oxidase deficiencyQ73089677
An out-of-frame cytochrome b gene deletion from a patient with parkinsonism is associated with impaired complex III assembly and an increase in free radical productionQ73192853
Cytochrome oxidase immunohistochemistry: clues for genetic mechanismsQ73472189
Mitochondrial myopathy, parkinsonism, and multiple mtDNA deletions in a Sephardic Jewish familyQ73685069
A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidaseQ73731474
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2Q73775066
Pregnancy with cytochrome oxidase-deficient mitochondrial myopathyQ73835431
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with ocular myopathyQ74014562
Combined enzymatic complex I and III deficiency associated with mutations in the nuclear encoded NDUFS4 geneQ74177562
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathyQ74228370
Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II geneQ74518028
Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper-transporting ATPaseQ28269082
Neurodegeneration in the animal model of Menkes' disease involves Bcl-2-linked apoptosisQ28588740
Cytochrome c oxidase in Alzheimer's disease brain: purification and characterizationQ30465592
Atypical MELAS syndrome associated with a new mitochondrial tRNA glutamine point mutationQ31921055
Cytochrome c oxidase deficient cells accumulate in the hippocampus and choroid plexus with age.Q31968612
Organization of multiple nucleoids and DNA molecules in mitochondria of a human cellQ33265798
Cytochrome c oxidase deficiency presenting as recurrent neonatal myoglobinuriaQ33488560
Mitochondrial involvement in Alzheimer's diseaseQ33540918
Structural basis of multifunctional bovine mitochondrial cytochrome bc1 complexQ33790884
Mitochondrial physiology and pathology; concepts of programmed death of organelles, cells and organismsQ33811822
Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?Q33961460
A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.Q34088669
Mitochondrial encephalomyopathy and complex III deficiency associated with a stop-codon mutation in the cytochrome b geneQ34144271
Effects of mutations in mitochondrial cytochrome b in yeast and man. Deficiency, compensation and disease.Q34169851
Mitochondrial DNA mutations in disease and ageing.Q34203016
Ubiquinone (coenzyme q10) and mitochondria in oxidative stress of parkinson's diseaseQ34249987
Mitochondrial function and alzheimer's diseaseQ34249993
Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.Q34386122
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency.Q34386504
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyQ34388122
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.Q34390115
A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndromeQ34511770
Structure at 2.8 Å resolution of cytochrome c oxidase from Paracoccus denitrificansQ34662350
Oxygen activation and the conservation of energy in cell respirationQ35226038
Structure and function of cytochrome c oxidaseQ37886474
Vectorial electron and proton transfer steps in the cytochrome bc1 complexQ37891006
Cytochrome-c oxidase. Subunit structure and proton pumping.Q38181156
Cytochrome c oxidase-deficient patients have distinct subunit assembly profilesQ40816638
LacticacidemiaQ40859208
A single cell complementation class is common to several cases of cytochrome c oxidase-defective Leigh's syndrome.Q41129950
Evidence for physiological down-regulation of brain oxidative phosphorylation in Alzheimer's diseaseQ41206150
Subunit specific monoclonal antibodies show different steady-state levels of various cytochrome-c oxidase subunits in chronic progressive external ophthalmoplegiaQ41206220
Human cytochrome c oxidase: structure, function, and deficiency.Q41547376
Evidence for a mitochondrial oxidative phosphorylation defect in brains from patients with schizophreniaQ42501952
Deafferentation of the septo-hippocampal pathway in rats as a model of the metabolic events in Alzheimer's diseaseQ42503868
Leigh disease: clinical, neuroradiologic, and biochemical study of three new cases with cytochrome c oxidase deficiencyQ42508837
Adefovir nephrotoxicity: possible role of mitochondrial DNA depletionQ43526884
New splicing-site mutations in the SURF1 gene in Leigh syndrome patientsQ43560233
Dramatic improvement in mitochondrial cardiomyopathy following treatment with idebenoneQ43564490
Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.Q43581937
The mitochondrial DNA mutation T12297C affects a highly conserved nucleotide of tRNA(Leu(CUN)) and is associated with dilated cardiomyopathyQ43583234
Abnormal calcium homeostasis in fibroblasts from patients with Leigh disease.Q43600254
Ethanol decreases the expression of mitochondrial cytochrome c oxidase mRNA in the rat.Q43619951
Energy hypometabolism in posterior cingulate cortex of Alzheimer's patients: superficial laminar cytochrome oxidase associated with disease duration.Q43653444
A novel nonsense mutation (Q352X) in the mitochondrial cytochrome b gene associated with a combined deficiency of complexes I and III.Q43814295
Myoclonic epilepsy and ragged-red fibers with cytochrome oxidase deficiency: neuropathology, biochemistry, and molecular geneticsQ44023731
Identification of the electron transfers in cytochrome oxidase that are coupled to proton-pumpingQ44352752
Increased sensitivity of cerebrohepatorenal syndrome fibroblasts to antimycin AQ44493978
Cytochrome b mutations in Leber hereditary optic neuropathyQ44775364
Cytochrome c oxidase: structure and spectroscopyQ47910949
Cytochrome c oxidase as a proton-pumping peroxidase: reaction cycle and electrogenic mechanismQ47983275
Crystal structure of bovine heart cytochrome c oxidase at 2.8 A resolutionQ47983409
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeQ48054632
A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding geneQ48071183
Electron transport chain defects in Alzheimer's disease brainQ48107929
Clinical and biochemical studies on cytochrome oxidase deficienciesQ48162574
Cytochrome c oxidase deficiency in Leigh syndromeQ48203324
MELAS: clinical features, biochemistry, and molecular geneticsQ48496312
Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.Q48550765
Cytochrome C oxidase-deficient mitochondria in mitochondrial myopathyQ48601404
Mitochondrial cytochrome deficiency presenting as a myopathy with hypotonia, external ophthalmoplegia, and lactic acidosis in an infant and as fatal hepatopathy in a second cousin.Q48735604
A SURF1 gene mutation presenting as isolated leukodystrophyQ48839472
Progressive poliodystrophy (Alpers' disease) with a defect in cytochrome aa3 in muscle: a report of two unrelated patientsQ48846738
Diagnosis of cyanide intoxication by measurement of cytochrome c oxidase activityQ48909501
A case of MERRF associated with chronic pancreatitisQ48921665
Vascular involvement in benign infantile mitochondrial myopathy caused by reversible cytochrome c oxidase deficiencyQ48971246
Two point mutations in mitochondrial DNA of cytochrome c oxidase coexist with normal mtDNA in a patient with Alzheimer's diseaseQ48973485
Leigh syndrome: clinical features and biochemical and DNA abnormalities.Q49107059
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.Q50515850
Characterization of SURF-1 expression and Surf-1p function in normal and disease conditions.Q50515893
Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNAIle 4269 mutation): histochemical, immunohistochemical, and ultrastructural studyQ50518910
Lactic Acidosis and Mitochondrial Myopathy Associated with Deficiency of Several Components of Complex III of the Respiratory ChainQ51641269
Reduced platelet cytochrome c oxidase activity in Alzheimer's disease.Q53207411
Functional alterations in Alzheimer's disease: selective loss of mitochondrial-encoded cytochrome oxidase mRNA in the hippocampal formation.Q53316227
Two novel mutations of SURF1 in Leigh syndrome with cytochrome c oxidase deficiencyQ56591758
A Novel Mutation in SURF1 Causes Skipping of Exon 8 in a Patient with Cytochrome c Oxidase-Deficient Leigh Syndrome and HypertrichosisQ56866594
Loss-of-function mutations of SURF-1 are specifically associated with Leigh syndrome with cytochromec oxidase deficiencyQ57251902
Age-related mitochondrial genotypic and phenotypic alterations in human skeletal muscleQ60532160
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNALeu(UUR)Q61606262
Antimycin resistance and ubiquinol cytochrome c reductase instability associated with a human cytochrome b mutation.Q64897786
Clinical heterogeneity in respiratory chain complex III deficiency in childhoodQ67208792
P433issue5
P407language of work or nameEnglishQ1860
P304page(s)385-412
P577publication date2002-10-01
P1433published inMolecular Aspects of MedicineQ6895933
P1476titleDefects in mitochondrial respiratory complexes III and IV, and human pathologies.
P478volume23

Reverse relations

cites work (P2860)
Q35958844Caspase cleavage of cytochrome c1 disrupts mitochondrial function and enhances cytochrome c release
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Q35209505The cytochrome bd respiratory oxygen reductases
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