Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1
about
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityTIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complexCharacterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex ICombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesNDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex INDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex IThe mitochondrial disease associated protein Ndufaf2 is dispensable for Complex-1 assembly but critical for the regulation of oxidative stressThe C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.A three-dimensional topology of complex I inferred from evolutionary correlations.PRPF8 defects cause missplicing in myeloid malignancies.Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and developmentAssembly factors for the membrane arm of human complex I.Clinical validity of biochemical and molecular analysis in diagnosing Leigh syndrome: a study of 106 Japanese patients.Early complex I assembly defects result in rapid turnover of the ND1 subunit.The superfamily of mitochondrial Complex1_LYR motif-containing (LYRM) proteins.Novel mutations m.3959G>A and m.3995A>G in mitochondrial gene MT-ND1 associated with MELAS.Somatic complex I disruptive mitochondrial DNA mutations are modifiers of tumorigenesis that correlate with low genomic instability in pituitary adenomas.Acadian variant of Fanconi syndrome is caused by mitochondrial respiratory chain complex I deficiency due to a non-coding mutation in complex I assembly factor NDUFAF6.Compound heterozygous missense and deep intronic variants in NDUFAF6 unraveled by exome sequencing and mRNA analysis.Assembly of mammalian oxidative phosphorylation complexes I-V and supercomplexes
P2860
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P2860
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1
description
2011 nî lūn-bûn
@nan
2011 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
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name
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@ast
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en-gb
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@nl
type
label
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@ast
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en-gb
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@nl
prefLabel
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@ast
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en-gb
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@nl
P50
P921
P3181
P1476
Mutations in the gene encoding ...... tochondria-encoded subunit ND1
@en
P2093
Christa George
P304
P3181
P356
10.1016/J.JMB.2011.10.012
P407
P577
2011-12-02T00:00:00Z