Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

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Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene is …
instance of (P31):
scholarly articleQ13442814

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P6179Dimensions Publication ID1003664613
P356DOI10.1038/15513
P3181OpenCitations bibliographic resource ID1474515
P698PubMed publication ID10545952
P5875ResearchGate publication ID12754771

P50authorIchizo NishinoQ37828689
Michio HiranoQ89906306
P2093author name stringS Krishna
D M Glerum
D C De Vivo
C M Sue
S DiMauro
S Shanske
E A Schon
W Walker
E Bonilla
P Kaplan
M M Davidson
K Tanji
R Lebel
G Lyon
J Selby
E Scalais
J E Sadlock
L C Papadopoulou
R V Coster
P2860cites workSURF1, 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
Cloning of a human gene involved in cytochrome oxidase assembly by functional complementation of an oxa1- mutation in Saccharomyces cerevisiaeQ24310678
Isolation of a human cDNA for heme A:farnesyltransferase by functional complementation of a yeast cox10 mutantQ24319047
Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitmentQ24323240
SCO1, a yeast nuclear gene essential for accumulation of mitochondrial cytochrome c oxidase subunit II.Q27932499
Characterization of COX17, a yeast gene involved in copper metabolism and assembly of cytochrome oxidaseQ27934782
Immunological identification of yeast SCO1 protein as a component of the inner mitochondrial membraneQ27939251
Human members of the SCO1 gene family: complementation analysis in yeast and intracellular localizationQ28142444
A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathyQ33681493
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiencyQ34388122
Accumulation of the cytochrome c oxidase subunits I and II in yeast requires a mitochondrial membrane-associated protein, encoded by the nuclear SCO1 geneQ34450341
Mitochondrial DNA mutations and pathogenesisQ41547371
Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeQ44595873
Steady-state transcript levels of cytochrome c oxidase genes during human myogenesis indicate subunit switching of subunit VIa and co-expression of subunit VIIa isoformsQ44771353
Cytochrome c oxidase: structure and spectroscopyQ47910949
Molecular analysis of cytochrome c oxidase deficiency in Leigh's syndromeQ48054632
Cytochrome c oxidase deficiency in Leigh syndromeQ48203324
The identification of 18 nuclear genes required for the expression of the yeast mitochondrial gene encoding cytochrome c oxidase subunit 1Q67487792
Yeast SCO1 protein is required for a post-translational step in the accumulation of mitochondrial cytochrome c oxidase subunits I and IIQ68486954
Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiencyQ70167731
SCO1 and SCO2 act as high copy suppressors of a mitochondrial copper recruitment defect in Saccharomyces cerevisiaeQ71246164
Cytochemistry and immunocytochemistry of mitochondria in tissue sectionsQ71890063
Fatal infhntile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiencyQ72863474
Mitochondrial copper metabolism in yeast: mutational analysis of Sco1p involved in the biogenesis of cytochrome c oxidaseQ74609082
P433issue3
P407language of work or nameEnglishQ1860
P304page(s)333-7
P577publication date1999-11-01
P1433published inNature GeneticsQ976454
P1476titleFatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene
P478volume23

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cites work (P2860)
Q92543630A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia
Q101477998A Novel Variant in COX16 Causes Cytochrome c Oxidase Deficiency, Severe Fatal Neonatal Lactic Acidosis, Encephalopathy, Cardiomyopathy and Liver Dysfunction
Q35123687A Sco protein among the hypothetical proteins of Bacillus lehensis G1: Its 3D macromolecular structure and association with Cytochrome C Oxidase
Q44911329A case of sporadic infantile histiocytoid cardiomyopathy caused by the A8344G (MERRF) mitochondrial DNA mutation.
Q28199158A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis
Q33622307A functional screen for copper homeostasis genes identifies a pharmacologically tractable cellular system.
Q24535681A genomewide linkage-disequilibrium scan localizes the Saguenay-Lac-Saint-Jean cytochrome oxidase deficiency to 2p16
Q53075411A history of mitochondrial diseases.
Q34088669A mutant mitochondrial respiratory chain assembly protein causes complex III deficiency in patients with tubulopathy, encephalopathy and liver failure.
Q34768367A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy
Q47074411A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.
Q37774749A neurological perspective on mitochondrial disease.
Q28213285A role for mitochondrial enzymes in inherited neoplasia and beyond
Q28509157A stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscle
Q35019411A targetable fluorescent sensor reveals that copper-deficient SCO1 and SCO2 patient cells prioritize mitochondrial copper homeostasis.
Q37018318Abundance and Significance of Iron, Zinc, Copper, and Calcium in the Hearts of Patients With Friedreich Ataxia
Q73943201Activities of mitochondrial oxidative phosphorylation enzymes in cultured amniocytes
Q28589741Analysis of mouse models of cytochrome c oxidase deficiency owing to mutations in Sco2
Q41859118Analysis of reported SCO2 gene mutations affecting cytochrome c oxidase activity in various diseases
Q36239807Antibody-based approaches to diagnosis and characterization of oxidative phosphorylation diseases
Q37220086Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders
Q34535761Assembly of mitochondrial cytochrome c-oxidase, a complicated and highly regulated cellular process
Q40814307Association between SCO2 mutation and extreme myopia in Japanese patients
Q36796192Biochemical assays of respiratory chain complex activity
Q92455084Biochemistry of Copper Site Assembly in Heme-Copper Oxidases: A Theme with Variations
Q34220248Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core
Q47709325Building the CuA site of cytochrome c oxidase: a complicated, redox-dependent process driven by a surprisingly large complement of accessory proteins
Q24655437CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures
Q92087519COA6 Is Structurally Tuned to Function as a Thiol-Disulfide Oxidoreductase in Copper Delivery to Mitochondrial Cytochrome c Oxidase
Q24338334COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2
Q27939371COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae
Q36680529COX19 mediates the transduction of a mitochondrial redox signal from SCO1 that regulates ATP7A-mediated cellular copper efflux
Q36906195Cancer metabolism, stemness and tumor recurrence: MCT1 and MCT4 are functional biomarkers of metabolic symbiosis in head and neck cancer
Q35693895Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model
Q39413241Cellular copper homeostasis: current concepts on its interplay with glutathione homeostasis and its implication in physiology and human diseases
Q40733578Characterization and identification of promoter elements in the mouse COX17 gene
Q34280992Clinical and molecular studies of mitochondrial disease
Q73912619Clinical differences in patients with mitochondriocytopathies due to nuclear versus mitochondrial DNA mutations
Q34386724Clinical spectrum and diagnosis of mitochondrial disorders
Q36097913Coiled coil domain-containing protein 56 (CCDC56) is a novel mitochondrial protein essential for cytochrome c oxidase function
Q39517896Comparative DNA methylation and gene expression analysis identifies novel genes for structural congenital heart diseases.
Q45124854Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Q24337420Cooperation between COA6 and SCO2 in COX2 maturation during cytochrome c oxidase assembly links two mitochondrial cardiomyopathies
Q36243954Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations
Q35050254Copper chaperones for cytochrome c oxidase and human disease
Q37808945Copper handling machinery of the brain
Q34209733Copper modulates the degradation of copper chaperone for Cu,Zn superoxide dismutase by the 26 S proteosome.
Q24534079Copper supplementation restores cytochrome c oxidase activity in cultured cells from patients with SCO2 mutations
Q24337613Copper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiency
Q38942904Copper transporters and chaperones: Their function on angiogenesis and cellular signalling
Q27936222Crystal structure of human SCO1: implications for redox signaling by a mitochondrial cytochrome c oxidase "assembly" protein
Q28189586Cytochrome c oxidase deficiency
Q35038648Cytochrome c oxidase deficiency
Q92028567Cytochrome c oxidase deficiency caused by biallelic SCO2 mutations in two sibs with cerebellar ataxia and progressive peripheral axonal neuropathy
Q24299371Cytochrome c oxidase subassemblies in fibroblast cultures from patients carrying mutations in COX10, SCO1, or SURF1
Q40816638Cytochrome c oxidase-deficient patients have distinct subunit assembly profiles
Q34594190Cytochrome oxidase in health and disease.
Q34064462Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
Q34600372Defects in cytochrome oxidase assembly in humans: lessons from yeast
Q30331712Defects in mitochondrial respiratory complexes III and IV, and human pathologies.
Q33922286Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts
Q36267201Dietary copper supplementation reverses hypertrophic cardiomyopathy induced by chronic pressure overload in mice
Q51682565Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models.
Q37279228Doxorubicin inactivates myocardial cytochrome c oxidase in rats: cardioprotection by Mito-Q
Q47074213Early developmental pathology due to cytochrome c oxidase deficiency is revealed by a new zebrafish model
Q74518028Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene
Q42556101Effect of p53 on mitochondrial morphology, import, and assembly in skeletal muscle.
Q90426371Elesclomol restores mitochondrial function in genetic models of copper deficiency
Q36238864Essential role for mammalian copper transporter Ctr1 in copper homeostasis and embryonic development
Q47721349Evaluation of SCO1 deletion on Saccharomyces cerevisiae metabolism through a proteomic approach.
Q42316612Exogenous addition of histidine reduces copper availability in the yeast Saccharomyces cerevisiae
Q34203277Exome sequencing identifies MRPL3 mutation in mitochondrial cardiomyopathy
Q24301657Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy
Q40259007Exome sequencing reveals SCO2 mutations in a family presented with fatal infantile hyperthermia
Q37649092Expression of alternative oxidase in Drosophila ameliorates diverse phenotypes due to cytochrome oxidase deficiency
Q57245327Fatal neonatal mitochondrial cytopathy with disseminated fatty nodules in the liver
Q35436157Frequency of mitochondrial transfer RNA mutations and deletions in 225 patients presenting with respiratory chain deficiencies
Q24617140GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L
Q38042727Genetic axonal neuropathies and neuronopathies of pre-natal and infantile onset
Q35879073Genetics of inherited cardiomyopathies
Q36024352Genome-wide patterns of copy number variation in the Chinese yak genome
Q48312308Genomic structure of mouse copper chaperone, COX17.
Q35932266HIF1α induced switch from bivalent to exclusively glycolytic metabolism during ESC-to-EpiSC/hESC transition
Q35819361Heart mitochondria signaling pathways: appraisal of an emerging field
Q36812709Heavy metal ions in normal physiology, toxic stress, and cytoprotection.
Q34631359Hepatic transport systems
Q28661465Historical perspective on mitochondrial medicine
Q46238305Hodgkin lymphoma: A complex metabolic ecosystem with glycolytic reprogramming of the tumor microenvironment.
Q33582770Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase
Q34972244Human SCO2 is required for the synthesis of CO II and as a thiol-disulphide oxidoreductase for SCO1.
Q28266498Human Sco1 and Sco2 function as copper-binding proteins
Q24290607Human complex I defects can be resolved by monoclonal antibody analysis into distinct subunit assembly patterns
Q34067750Human cytochrome oxidase deficiency
Q57175222Human diseases associated with defects in assembly of OXPHOS complexes
Q38711145Human mitochondrial cytochrome c oxidase assembly factor COX18 acts transiently as a membrane insertase within the subunit 2 maturation module
Q47198282Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity
Q47719245Impaired p53/CEP-1 is associated with lifespan extension through an age-related imbalance in the energy metabolism of C. elegans.
Q104472489In vivo biodistribution study of TAT-L-Sco2 fusion protein, developed as protein therapeutic for mitochondrial disorders attributed to SCO2 mutations
Q35089820In vivo correction of COX deficiency by activation of the AMPK/PGC-1α axis
Q40775533In vivo regulation of oxidative phosphorylation in cells harboring a stop-codon mutation in mitochondrial DNA-encoded cytochrome c oxidase subunit I.
Q27935659Inaccurately assembled cytochrome c oxidase can lead to oxidative stress-induced growth arrest.
Q34009643Inborn errors of metabolism around time of birth
Q44099489Infantile leukoencephalopathy owing to mitochondrial enzyme dysfunction
Q40132047Influence of common and rare genetic variation on warfarin dose among African-Americans and European-Americans using the exome array
Q40394628Inheritance of mitochondrial disorders
Q33786829Inherited Paediatric Motor Neuron Disorders: Beyond Spinal Muscular Atrophy
Q37735366Inhibiting Cytochrome C Oxidase Leads to Alleviated Ischemia Reperfusion Injury
Q39361708Insights into the mechanisms of copper dyshomeostasis in amyotrophic lateral sclerosis
Q44532294Insulin-like growth factor-1 prevents loss of electrochemical gradient in cardiac muscle mitochondria via activation of PI 3 kinase/Akt pathway.
Q60205139Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient
Q48199735Investigating the cardiac pathology of SCO2-mediated hypertrophic cardiomyopathy using patients induced pluripotent stem cell-derived cardiomyocytes
Q41260893Iron and copper in mitochondrial diseases
Q36727229Isolated cytochrome c oxidase deficiency in G93A SOD1 mice overexpressing CCS protein
Q35183941Krüppel-like factor 6 regulates mitochondrial function in the kidney
Q28192185Laboratory approach to mitochondrial diseases
Q24533500Large-scale deletion and point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency
Q48308173Leigh disease due to SCO2 mutations revealed at extended autopsy.
Q37302025Light microscopic methods to visualize mitochondria on tissue sections
Q38806341Loss of LRPPRC causes ATP synthase deficiency
Q34964534Loss of function of Sco1 and its interaction with cytochrome c oxidase
Q28587981Mammalian copper chaperone Cox17p has an essential role in activation of cytochrome C oxidase and embryonic development
Q83120532Measurement of ATP production in mitochondrial disorders
Q36225141Mining copper transport genes
Q36524727Mitochondrial DNA mutations in human colonic crypt stem cells
Q35190973Mitochondrial Diseases Part I: mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors
Q36517059Mitochondrial Dysfunction may explain symptom variation in Phelan-McDermid Syndrome
Q60303203Mitochondrial Sco proteins are involved in oxidative stress defense
Q30588636Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review
Q33827986Mitochondrial copper metabolism and delivery to cytochrome c oxidase
Q73209476Mitochondrial copper metabolism in yeast: interaction between Sco1p and Cox2p
Q47783506Mitochondrial cytochrome c oxidase biogenesis: Recent developments.
Q26769015Mitochondrial cytochrome c oxidase deficiency
Q34543745Mitochondrial disease
Q36551271Mitochondrial disease genes COA6, COX6B and SCO2 have overlapping roles in COX2 biogenesis
Q41934213Mitochondrial disease in 22q13 duplication syndrome
Q36707793Mitochondrial disease--its impact, etiology, and pathology.
Q78517318Mitochondrial diseases
Q37970121Mitochondrial diseases and the heart: an overview of molecular basis, diagnosis, treatment and clinical course
Q36765849Mitochondrial diseases: a nosological update.
Q37890682Mitochondrial disorders caused by mutations in respiratory chain assembly factors
Q35038630Mitochondrial disorders of the nervous system: clinical, biochemical, and molecular genetic features
Q33810406Mitochondrial disorders of the nuclear genome
Q27000484Mitochondrial disorders: challenges in diagnosis & treatment
Q24337810Mitochondrial disulfide relay mediates translocation of p53 and partitions its subcellular activity
Q92932334Mitochondrial dysfunction and its role in tissue-specific cellular stress
Q24630557Mitochondrial dysfunction in autism spectrum disorders: a systematic review and meta-analysis
Q82029875Mitochondrial encephalomyopathies
Q35085834Mitochondrial encephalomyopathies
Q36085696Mitochondrial respiration protects against oxygen-associated DNA damage
Q35685889Mitochondriopathies
Q35038672Models of mitochondrial disease
Q33623775Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects
Q44069100Molecular characterization of Saccharomyces cerevisiae Sco2p reveals a high degree of redundancy with Sco1p
Q37206274Molecular diagnostics and mitochondrial dysfunction: a future perspective.
Q34662075Molecular mechanisms of copper uptake and distribution
Q37120797Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases
Q37404541Multisystem manifestations of mitochondrial disorders
Q44289091Mutation analysis of copper transporter genes in patients with ethylmalonic encephalopathy, mitochondriopathies and copper deficiency phenotypes
Q47962448Mutation in mitochondrial complex IV subunit COX5A causes pulmonary arterial hypertension, lactic acidemia, and failure to thrive
Q28204376Mutation screening in patients with isolated cytochrome c oxidase deficiency
Q24301791Mutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosis
Q50218362Mutations in COA3 cause isolated complex IV deficiency associated with neuropathy, exercise intolerance, obesity, and short stature
Q24328756Mutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathy
Q24339538Mutations in SCO2 are associated with autosomal-dominant high-grade myopia
Q42863252Mutations in cytochrome assembly and periplasmic redox pathways in Bordetella pertussis
Q28646237Mutations in the complex I NDUFS2 gene of patients with cardiomyopathy and encephalomyopathy
Q24534480Mutations of the SCO1 gene in mitochondrial cytochrome c oxidase deficiency with neonatal-onset hepatic failure and encephalopathy.
Q38818384Myoglobin and the regulation of mitochondrial respiratory chain complex IV.
Q39414816Myopathology of Adult and Paediatric Mitochondrial Diseases
Q33735567NAD(+)-dependent activation of Sirt1 corrects the phenotype in a mouse model of mitochondrial disease
Q37724335Neonatal neuroimaging findings in inborn errors of metabolism
Q35647359New approaches to the treatment of mitochondrial disorders
Q43497460New perspectives on the assembly process of mitochondrial respiratory chain complex cytochrome c oxidase.
Q36894743No Evidence for Association of SCO2 Heterozygosity with High-Grade Myopia or Other Diseases with Possible Mitochondrial Dysfunction
Q43920593Novel mutations in SCO1 as a cause of fatal infantile encephalopathy and lactic acidosis.
Q34147373Novel transporter required for biogenesis of cbb3-type cytochrome c oxidase in Rhodobacter capsulatus
Q38963725Nutritional interventions in primary mitochondrial disorders: Developing an evidence base.
Q48864554Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria
Q36796199Optical imaging techniques (histochemical, immunohistochemical, and in situ hybridization staining methods) to visualize mitochondria
Q39420445Orchestration of dynamic copper navigation - new and missing pieces
Q37412986Pathogenic mutations of nuclear genes associated with mitochondrial disorders
Q33970870Polo-like kinase 2 activates an antioxidant pathway to promote the survival of cells with mitochondrial dysfunction
Q37321107Polo-like kinases mediate cell survival in mitochondrial dysfunction
Q33158252Prevalence and natural history of heart disease in adults with primary mitochondrial respiratory chain disease
Q34038891Progress in genetic counselling and prenatal diagnosis of maternally inherited mtDNA diseases
Q30582580Protective effect of Dl-3n-butylphthalide on learning and memory impairment induced by chronic intermittent hypoxia-hypercapnia exposure
Q33714643Redox susceptibility of SOD1 mutants is associated with the differential response to CCS over-expression in vivo
Q36492752Rescue of PINK1 protein null-specific mitochondrial complex IV deficits by ginsenoside Re activation of nitric oxide signaling
Q28189572Respiratory chain complex I deficiency
Q51699078Reversible fulminant lactic acidosis and liver failure in an infant with hepatic cytochrome-c oxidase deficiency.
Q42481864Reversible infantile respiratory chain deficiency: a clinical and molecular study.
Q44768692Reversion of hypertrophic cardiomyopathy in a patient with deficiency of the mitochondrial copper binding protein Sco2: is there a potential effect of copper?
Q33932655Role of SCOX in determination of Drosophila melanogaster lifespan
Q36818459SCO2 Mediates Oxidative Stress-Induced Glycolysis to Oxidative Phosphorylation Switch in Hematopoietic Stem Cells
Q47851457SCO2 mutations cause early-onset axonal Charcot-Marie-Tooth disease associated with cellular copper deficiency
Q37868760Seeking the determinants of the elusive functions of Sco proteins
Q28218867Sequence diversity of KIAA0027/MLC1: are megalencephalic leukoencephalopathy and schizophrenia allelic disorders?
Q27931754Shy1p occurs in a high molecular weight complex and is required for efficient assembly of cytochrome c oxidase in yeast
Q38280117Strategies for treating mitochondrial disorders: an update
Q46768505Structural analysis of tissues affected by cytochrome C oxidase deficiency due to mutations in the SCO2 gene
Q37101634Suppression mechanisms of COX assembly defects in yeast and human: insights into the COX assembly process
Q34441342Targeted deletion of both thymidine phosphorylase and uridine phosphorylase and consequent disorders in mice
Q35501975The Genetics of Spinal Muscular Atrophy: Progress and Challenges
Q34500004The P174L mutation in human Sco1 severely compromises Cox17-dependent metallation but does not impair copper binding.
Q28567123The expression of Cox17p in rodent tissues and cells
Q37560946The genetics and pathology of mitochondrial disease.
Q34237999The genetics and pathology of oxidative phosphorylation
Q36631296The genetics of essential metal homeostasis during development
Q33608204The in-depth evaluation of suspected mitochondrial disease
Q47296599The mammalian phosphate carrier SLC25A3 is a mitochondrial copper transporter required for cytochrome c oxidase biogenesis.
Q35546736The many highways for intracellular trafficking of metals
Q47074405The mitochondrial TMEM177 associates with COX20 during COX2 biogenesis
Q47706161The mitochondrial metallochaperone SCO1 maintains CTR1 at the plasma membrane to preserve copper homeostasis in the murine heart
Q47737436The mitochondrion: a central architect of copper homeostasis.
Q34269333The oxidative phosphorylation (OXPHOS) system: nuclear genes and human genetic diseases
Q37418894The power of yeast to model diseases of the powerhouse of the cell.
Q24534961Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1
Q36957020Toxicity of the flame-retardant BDE-49 on brain mitochondria and neuronal progenitor striatal cells enhanced by a PTEN-deficient background
Q37923355Transduction of human recombinant proteins into mitochondria as a protein therapeutic approach for mitochondrial disorders
Q93348677Trientine selectively delivers copper to the heart and suppresses pressure overload-induced cardiac hypertrophy in rats
Q24300850Unexpected vascular enrichment of SCO1 over SCO2 in mammalian tissues: implications for human mitochondrial disease
Q50752065Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Q51708433Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Q27939915Yeast Sco1, a protein essential for cytochrome c oxidase function is a Cu(I)-binding protein.
Q35687142Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies
Q34517765Yeast mitochondrial biogenesis: a model system for humans?
Q53640842[Pediatric cardiology in the genomic era].
Q53662201[The mitochondrial organelle and the heart].
Q37386712p53 improves aerobic exercise capacity and augments skeletal muscle mitochondrial DNA content
Q35151326p53, Aerobic Metabolism, and Cancer

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