C6ORF66 is an assembly factor of mitochondrial complex I
about
Mitochondrial translation and beyond: processes implicated in combined oxidative phosphorylation deficienciesFOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathyMutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial diseaseHuman ind1, an iron-sulfur cluster assembly factor for respiratory complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseA mitochondrial protein compendium elucidates complex I disease biologyCombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMitochondrial geneticsDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesNDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex INDUFA2 complex I mutation leads to Leigh diseaseScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundAnalysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingHistorical perspective on mitochondrial medicineInhibition of TFG function causes hereditary axon degeneration by impairing endoplasmic reticulum structure.Respiratory supercomplexes: structure, function and assembly.The p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesMutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews.A three-dimensional topology of complex I inferred from evolutionary correlations.Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy.Insights into the composition and assembly of the membrane arm of plant complex I through analysis of subcomplexes in Arabidopsis mutant lines.Mice lacking TR4 nuclear receptor develop mitochondrial myopathy with deficiency in complex I.An update on complex I assembly: the assembly of players.Redefining the roles of mitochondrial DNA-encoded subunits in respiratory Complex I assemblyNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial respiratory complex I: structure, function and implication in human diseases.The iron-sulphur protein Ind1 is required for effective complex I assembly.Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyApproaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.Regulation of mitochondrial respiratory chain biogenesis by estrogens/estrogen receptors and physiological, pathological and pharmacological implications.Pathogenic mutations of nuclear genes associated with mitochondrial disorders.Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease.The genetics and pathology of mitochondrial disease.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.The molecular basis of human complex I deficiency.Mitochondrial disease and epilepsy.Mitochondrial epilepsy in pediatric and adult patients.Mitochondrial disease associated with complex I (NADH-CoQ oxidoreductase) deficiency.A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.Early complex I assembly defects result in rapid turnover of the ND1 subunit.
P2860
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C6ORF66 is an assembly factor of mitochondrial complex I
description
2008 nî lūn-bûn
@nan
2008 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
C6ORF66 is an assembly factor of mitochondrial complex I
@ast
C6ORF66 is an assembly factor of mitochondrial complex I
@en
C6ORF66 is an assembly factor of mitochondrial complex I
@en-gb
C6ORF66 is an assembly factor of mitochondrial complex I
@nl
type
label
C6ORF66 is an assembly factor of mitochondrial complex I
@ast
C6ORF66 is an assembly factor of mitochondrial complex I
@en
C6ORF66 is an assembly factor of mitochondrial complex I
@en-gb
C6ORF66 is an assembly factor of mitochondrial complex I
@nl
prefLabel
C6ORF66 is an assembly factor of mitochondrial complex I
@ast
C6ORF66 is an assembly factor of mitochondrial complex I
@en
C6ORF66 is an assembly factor of mitochondrial complex I
@en-gb
C6ORF66 is an assembly factor of mitochondrial complex I
@nl
P2093
P2860
P921
P3181
P1476
C6ORF66 is an assembly factor of mitochondrial complex I
@en
P2093
Avraham Shaag
Chaya Miller
Haya Lorberboum-Galski
Khaled Amry
Matan Rapoport
Orly Elpeleg
P2860
P3181
P356
10.1016/J.AJHG.2007.08.003
P407
P577
2008-01-01T00:00:00Z