FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
about
Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex IThe human flavoproteomeBtn3 is a negative regulator of Btn2-mediated endosomal protein trafficking and prion curing in yeast.Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fissionScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundParallel evolution of genes controlling mitonuclear balance in short-lived annual fishesPioglitazone leads to an inactivation and disassembly of complex I of the mitochondrial respiratory chainA forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii.An update on complex I assembly: the assembly of players.Maternally inherited mitochondrial DNA disease in consanguineous families.Human involucrin promoter mediates repression-resistant and compartment-specific LEKTI expressionNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Copper and bezafibrate cooperate to rescue cytochrome c oxidase deficiency in cells of patients with SCO2 mutations.Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and developmentMutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I DeficiencyAssembly factors for the membrane arm of human complex I.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.The molecular basis of human complex I deficiency.Mitochondrial disease and epilepsy.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.Replacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexesMitochondrial complex I assembly model OXPHOS systemHuman diseases associated with defects in assembly of OXPHOS complexes
P2860
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P2860
FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy
description
2010 nî lūn-bûn
@nan
2010 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2010 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2010年の論文
@ja
2010年論文
@yue
2010年論文
@zh-hant
2010年論文
@zh-hk
2010年論文
@zh-mo
2010年論文
@zh-tw
2010年论文
@wuu
name
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@ast
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en-gb
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@nl
type
label
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@ast
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en-gb
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@nl
prefLabel
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@ast
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en-gb
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@nl
P2093
P2860
P50
P921
P356
P1476
FOXRED1, encoding an FAD-depen ...... t mitochondrial encephalopathy
@en
P2093
Alistair T Pagnamenta
Andrew J Duncan
Elisa Fassone
Maria Bitner-Glindzicz
Paul Rutland
Sarah E Calvo
Shamima Rahman
Tatjana Holand
Vamsi K Mootha
P2860
P304
P356
10.1093/HMG/DDQ414
P407
P577
2010-12-15T00:00:00Z