Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
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 encephalopathyTIMMDC1/C3orf1 functions as a membrane-embedded mitochondrial complex I assembly factor through association with the MCIA complexHuman ind1, an iron-sulfur cluster assembly factor for respiratory complex ICombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseMitochondrial disorders: challenges in diagnosis & treatmentDynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative DiseasesThe arginine methyltransferase NDUFAF7 is essential for complex I assembly and early vertebrate embryogenesisNDUFAF7 methylates arginine 85 in the NDUFS2 subunit of human complex INDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex IMitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionAnalysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingHistorical perspective on mitochondrial medicineHigh-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiencyThe p.M292T NDUFS2 mutation causes complex I-deficient Leigh syndrome in multiple familiesBiomarker signatures of mitochondrial NDUFS3 in invasive breast carcinoma.The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.A three-dimensional topology of complex I inferred from evolutionary correlations.A forward genetic screen identifies mutants deficient for mitochondrial complex I assembly in Chlamydomonas reinhardtii.Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.Insights into the composition and assembly of the membrane arm of plant complex I through analysis of subcomplexes in Arabidopsis mutant lines.An update on complex I assembly: the assembly of players.Redefining the roles of mitochondrial DNA-encoded subunits in respiratory Complex I assemblyDefective Expression of the Mitochondrial-tRNA Modifying Enzyme GTPBP3 Triggers AMPK-Mediated Adaptive Responses Involving Complex I Assembly Factors, Uncoupling Protein 2, and the Mitochondrial Pyruvate Carrier.C7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translationNatural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Mitochondrial genetic diseases.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 DeficiencySuppression of fat deposition in broiler chickens by (-)-hydroxycitric acid supplementation: A proteomics perspective.Assembly factors for the membrane arm of human complex I.Next generation sequence analysis for mitochondrial disordersThe genetics and pathology of mitochondrial disease.Mouse models for nuclear DNA-encoded mitochondrial complex I deficiency.Mitochondrial disorders caused by mutations in respiratory chain assembly factors.The molecular basis of human complex I deficiency.Mitochondrial disease and epilepsy.The mitochondrial complex I of trypanosomatids--an overview of current knowledge.A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II.GRIM-19: A master regulator of cytokine induced tumor suppression, metastasis and energy metabolism.
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Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease
description
2009 nî lūn-bûn
@nan
2009 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@ast
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en-gb
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@nl
type
label
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@ast
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en-gb
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@nl
prefLabel
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@ast
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en-gb
Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@nl
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Mutations in NDUFAF3 (C3ORF60) ...... neonatal mitochondrial disease
@en
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Avraham Shaag
Flora Barghuti
Hans J Wessels
Jan A M Smeitink
Leo G Nijtmans
Mariël A van den Brand
Mordechai Shohat
Orit Reish
Rutger O Vogel
Saskia J Hoefs
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P304
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P356
10.1016/J.AJHG.2009.04.020
P407
P577
2009-06-01T00:00:00Z