about
From bytes to bedside: data integration and computational biology for translational cancer researchMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisDefects in energy homeostasis in Leigh syndrome French Canadian variant through PGC-1alpha/LRP130 complexMutations in COX15 produce a defect in the mitochondrial heme biosynthetic pathway, causing early-onset fatal hypertrophic cardiomyopathyCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyThe role of the LRPPRC (leucine-rich pentatricopeptide repeat cassette) gene in cytochrome oxidase assembly: mutation causes lowered levels of COX (cytochrome c oxidase) I and COX III mRNAA molecular chaperone for mitochondrial complex I assembly is mutated in a progressive encephalopathy.Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics.Missense mutations in the copper transporter gene ATP7A cause X-linked distal hereditary motor neuropathyAnalysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex IMitochondrial disease in childhood: nuclear encodedHuman Sco1 functional studies and pathological implications of the P174L mutantManganese activation of superoxide dismutase 2 in Saccharomyces cerevisiae requires MTM1, a member of the mitochondrial carrier family.Analysis of Leigh syndrome mutations in the yeast SURF1 homolog reveals a new member of the cytochrome oxidase assembly factor familyShy1 couples Cox1 translational regulation to cytochrome c oxidase assembly.Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria.COX16 encodes a novel protein required for the assembly of cytochrome oxidase in Saccharomyces cerevisiae.cAMP/PKA signaling balances respiratory activity with mitochondria dependent apoptosis via transcriptional regulation.Molecular basis of neurodegeneration and neurodevelopmental defects in Menkes diseaseMutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathyMutation screening in patients with isolated cytochrome c oxidase deficiencyCopper metallochaperonesA stabilizing factor for mitochondrial respiratory supercomplex assembly regulates energy metabolism in muscleMice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderlyPolymorphic variation in cytochrome oxidase subunit genes.Gene expression in a Drosophila model of mitochondrial disease.Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.Modulation of mitochondrial protein phosphorylation by soluble adenylyl cyclase ameliorates cytochrome oxidase defects.Redox susceptibility of SOD1 mutants is associated with the differential response to CCS over-expression in vivo.Mitochondrial DNA analysis in primary congenital glaucomaAssessment of cytochrome C oxidase dysfunction in the substantia nigra/ventral tegmental area in schizophrenia.Diabetic cardiomyopathy is associated with defective myocellular copper regulation and both defects are rectified by divalent copper chelationMitochondrial copper metabolism and delivery to cytochrome c oxidaseMemory consolidation and gene expression in Periplaneta americana.Therapeutic approaches to delay the onset of Alzheimer's diseaseBiogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.The heme a synthase Cox15 associates with cytochrome c oxidase assembly intermediates during Cox1 maturationDefects in cytochrome oxidase assembly in humans: lessons from yeast.A mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathy
P2860
Q21145672-370BDA69-1B20-4191-9282-F8602ACE4C6CQ24301791-115696D4-A5A3-43D1-A012-58D12DF00E88Q24307554-01E163E5-56EC-4F58-97B7-E249A1E58A27Q24328756-0EC5F94D-964E-4085-AB5C-886F8365B207Q24337613-79681B94-67FC-4295-A600-25E3D92BC5DBQ24528119-960AFA87-13E0-4187-9377-1BD2BF465A6DQ24536088-49BBC0B8-DFC5-48DD-8A52-9B6BBAE061DDQ24541342-D0E305C2-14C0-44D1-8E54-D92BBB89FA98Q24632623-3681BD58-2E75-41A0-AF1F-F711DC507FE1Q24683107-437D64BB-7126-44D8-9617-276EC385ED43Q26820866-573CFD2E-E54F-4D69-91B2-0B5D6C5D54C6Q27640878-84B204CE-915C-422A-B5A5-7A6C4D902B80Q27931394-8A4C21E9-83CB-4C25-A5D8-009E81DBB63DQ27933372-57F7D10D-EF95-48CC-983F-A31BCA937F39Q27933832-D82A5A43-D5B7-4063-9375-22DF9554A37EQ27936564-03911F11-2414-453A-AE2D-41031D780355Q27939371-E22FA8DA-86CB-455A-8ACD-A845EC33DB40Q27939781-AF227379-EE1F-477A-847C-BC8F070C6A59Q28088624-A694B7CC-B495-4F7A-97F5-DD4898D631D6Q28117028-81AA4D7A-9ABD-4085-86E5-53EE6AB34B2BQ28204376-4BA727A5-17F7-4796-9B2D-BF988F2AB3F5Q28275083-F2289728-137C-4A62-A942-4BD6656B3E4FQ28509157-BE896FAA-0DE5-4C5D-9730-603124A8B189Q28512560-8EFC7785-C19E-4337-9E8B-153A11E68260Q30417487-E60E89E4-861C-4E4F-9CDD-EEC886B570EFQ30435387-7570E868-9AF6-4C8B-AE8D-8263B0AC3B3AQ33523281-B5D7C3E3-F897-4FBA-84E5-DA4AF23665ABQ33582770-CE270D8B-AE62-47E6-A628-8135A9EAF835Q33623775-CAA0A578-4952-4DE1-A9FA-9DCFFF482D90Q33714643-D7C9B08B-DBE8-4AD2-BBE4-F41EAA8E4805Q33758614-039B4910-8798-46F3-BEB9-C7BE8B1F87D4Q33773639-EF388BEC-427C-4915-8E24-534EBE72700CQ33804265-FFEAE59D-0F96-400C-84F9-2A508CDB4E0BQ33827986-82428046-5387-4695-B9B4-5AA0223028A9Q33835496-2542D14F-3DBB-48DF-BD2C-990785738FA7Q34172377-0D403F86-5E03-4CC0-986D-BA48888C9B68Q34220248-1A1A4A54-78C3-4B68-A32C-B6744B95934AQ34366873-9D0C2F0E-0945-4542-ADEA-5801C082EBAAQ34600372-4CF3816A-A1E0-4942-B44D-CE8A7C47FFFEQ34768367-BCA9E983-F493-4396-8006-772F8E815927
P2860
description
2001 nî lūn-bûn
@nan
2001 թուականին հրատարակուած գիտական յօդուած
@hyw
2001 թվականին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
Cytochrome c oxidase deficiency
@ast
Cytochrome c oxidase deficiency
@en
Cytochrome c oxidase deficiency
@nl
type
label
Cytochrome c oxidase deficiency
@ast
Cytochrome c oxidase deficiency
@en
Cytochrome c oxidase deficiency
@nl
prefLabel
Cytochrome c oxidase deficiency
@ast
Cytochrome c oxidase deficiency
@en
Cytochrome c oxidase deficiency
@nl
P2860
P3181
P356
P1476
Cytochrome c oxidase deficiency
@en
P2093
E A Shoubridge
P2860
P3181
P356
10.1002/AJMG.1378
P407
P577
2001-01-01T00:00:00Z