Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
about
Iterative orthology prediction uncovers new mitochondrial proteins and identifies C12orf62 as the human ortholog of COX14, a protein involved in the assembly of cytochrome c oxidaseMitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesMutations in ABCD4 cause a new inborn error of vitamin B12 metabolismC7orf30 is necessary for biogenesis of the large subunit of the mitochondrial ribosomeMutations in C12orf62, a factor that couples COX I synthesis with cytochrome c oxidase assembly, cause fatal neonatal lactic acidosisRMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvementMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionCopper supplementation restores cytochrome c oxidase assembly defect in a mitochondrial disease model of COA6 deficiencyMitochondrial cytochrome c oxidase deficiencyThe human mitochondrial transcriptome and the RNA-binding proteins that regulate its expressionLoss of the RNA-binding protein TACO1 causes late-onset mitochondrial dysfunction in miceInfantile encephaloneuromyopathy and defective mitochondrial translation are due to a homozygous RMND1 mutation.Mam33 promotes cytochrome c oxidase subunit I translation in Saccharomyces cerevisiae mitochondria.Coa3 and Cox14 are essential for negative feedback regulation of COX1 translation in mitochondria.Mitochondrial translation initiation machinery: conservation and diversificationSURF1 deficiency causes demyelinating Charcot-Marie-Tooth diseaseMitochondrial Cytochrome c Oxidase Biogenesis Is Regulated by the Redox State of a Heme-Binding Translational ActivatorNoninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometryLYRM7/MZM1L is a UQCRFS1 chaperone involved in the last steps of mitochondrial Complex III assembly in human cells.The Schizosaccharomyces pombe PPR protein Ppr10 associates with a novel protein Mpa1 and acts as a mitochondrial translational activator.Human COX20 cooperates with SCO1 and SCO2 to mature COX2 and promote the assembly of cytochrome c oxidase.From complete genome sequence to 'complete' understanding?Tissue- and Condition-Specific Isoforms of Mammalian Cytochrome c Oxidase Subunits: From Function to Human Disease.LRPPRC and SLIRP interact in a ribonucleoprotein complex that regulates posttranscriptional gene expression in mitochondria.A compendium of human mitochondrial gene expression machinery with links to disease.Targeting of the cytosolic poly(A) binding protein PABPC1 to mitochondria causes mitochondrial translation inhibitionMutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectMicroRNA directly enhances mitochondrial translation during muscle differentiationHuman mitochondrial mRNAs--like members of all families, similar but differentERAL1 is associated with mitochondrial ribosome and elimination of ERAL1 leads to mitochondrial dysfunction and growth retardation.Biogenesis and assembly of eukaryotic cytochrome c oxidase catalytic core.The carboxyl-terminal end of Cox1 is required for feedback assembly regulation of Cox1 synthesis in Saccharomyces cerevisiae mitochondria.Mitochondrial protein synthesis, import, and assembly.In silico identification of a multi-functional regulatory protein involved in Holliday junction resolution in bacteria.The genetics of Leigh syndrome and its implications for clinical practice and risk managementTissue-specific responses to the LRPPRC founder mutation in French Canadian Leigh SyndromeA mutation in C2orf64 causes impaired cytochrome c oxidase assembly and mitochondrial cardiomyopathyA truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.A genome wide study in fission yeast reveals nine PPR proteins that regulate mitochondrial gene expression.The mitochondrial proteome and human disease.
P2860
Q21184006-92157603-8304-474E-BAF1-7D71D1C837EFQ21296841-C6AC60C9-EE2F-4168-AEC4-BDECD0C42651Q24297470-BF74DE29-ACFF-4721-BF35-2F63F936F009Q24301700-E4C492C8-FE43-4DC4-9629-5F0DFF6AE4D4Q24301791-334E4F05-D1A0-4F8D-B870-F3EB62531337Q24315651-CEEDA8E7-D335-4375-84A0-FC061F073A80Q24317119-2D5EADF6-17ED-452C-A82B-F9A498877395Q24337613-D8B0064D-D721-4002-ACE6-6C3B5ACADCB0Q26769015-02FBD956-9F10-4479-B3A7-F3E1349715B8Q27016551-1881F6BD-D461-429A-BDCE-7BF6EB6CE66FQ27312752-69B10DA5-D44C-4D15-9EC1-3CA28D7DB470Q27930570-DC5EF31E-5432-4323-A4FD-36929D8761A5Q27933178-F9A9B6A5-6E11-4376-850C-9ADB883E2C2DQ27936564-DD0EB428-A192-4DFF-93EE-19334702548BQ27936935-783498C2-C0DC-43A4-8362-178FE4D45849Q28118095-36869E4E-4DFA-4539-BF7D-F51961E677C1Q28387581-33B67D78-3109-47CD-AA85-975F3BC012E4Q28393214-EC24EE3A-5271-447B-89D1-4B60BF59D0A7Q32884553-65B68848-0360-401D-93C1-368F4EA1C2DAQ33557340-B2C1DA96-4A2F-43BE-9CDF-A36D8FF93F34Q33582770-7C775B0A-FECC-4F94-B941-11A35C8C9234Q33637109-7EAFC85C-9577-4672-A59C-5EEA958A73B3Q33737679-0A982F89-31D2-42A0-8F61-803FCC002A66Q33787234-F439D368-FB3D-46F4-A11C-A32C50B94607Q33915896-DA273E0F-FAC3-4A34-9B67-851683D6AAB9Q33922370-76E5858E-3169-446E-8AF6-142D37F6B934Q33960447-8A866B69-7F2D-4C33-8E23-C34898CA68DCQ34041632-808F6CF7-2472-40AF-9256-F2811266803FQ34102714-D1DAB4A0-CA3B-4583-9E40-34697CCD9E0EQ34122622-E4286795-FC1D-4FDF-BB75-7DDCABFF058DQ34220248-EDBEEDC8-05C6-45F6-BC00-817322A1A9C6Q34251080-936BF83B-8870-4B4D-B2C0-2FEFDB8CB98BQ34315681-7A32A958-0E87-4E70-B50F-B639A3C5A355Q34436750-89332AA1-4577-43BF-BBFE-5A39445B28C5Q34532004-D42A7B06-753E-4F19-A562-129A780AA724Q34764056-E3F362C8-FF2E-4C86-91D5-7151EE6394D0Q34768367-9028E723-4EE1-4ABA-88EC-6422F15240C7Q35009121-5789DBEC-A81A-46A8-A73E-DB156F3C9DCFQ35259193-DC73D621-8E7A-4EAC-AF01-676227D0346DQ35427460-9F813DB5-81B9-471C-9410-EDD7C8957BE2
P2860
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
description
2009 nî lūn-bûn
@nan
2009年の論文
@ja
2009年学术文章
@wuu
2009年学术文章
@zh-cn
2009年学术文章
@zh-hans
2009年学术文章
@zh-my
2009年学术文章
@zh-sg
2009年學術文章
@yue
2009年學術文章
@zh
2009年學術文章
@zh-hant
name
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@en
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@nl
type
label
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@en
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@nl
prefLabel
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@en
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@nl
P2093
P2860
P50
P356
P1433
P1476
Mutation in TACO1, encoding a ...... and late-onset Leigh syndrome.
@en
P2093
Bertold Schrank
Brett A Kaufman
Eric A Shoubridge
Florin Sasarman
Jill E Kolesar
Jürgen Seeger
Mario Chevrette
Woranontee Weraarpachai
P2860
P2888
P304
P356
10.1038/NG.390
P407
P577
2009-06-07T00:00:00Z
P5875
P6179
1041039771