Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

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http://www.wikidata.org/entity/Q56592348
Mitochondrial cytochrome c oxidase deficiencyNDUFAF5 Hydroxylates NDUFS7 at an Early Stage in the Assembly of Human Complex IMitochondrial Protein Interaction Mapping Identifies Regulators of Respiratory Chain FunctionScreening for active small molecules in mitochondrial complex I deficient patient's fibroblasts, reveals AICAR as the most beneficial compoundMitochondrial complex I plays an essential role in human respirasome assembly.Complex I dysfunction underlies the glycolytic switch in pulmonary hypertensive smooth muscle cells.Natural disease course and genotype-phenotype correlations in Complex I deficiency caused by nuclear gene defects: what we learned from 130 cases.Spatial and temporal dynamics of the cardiac mitochondrial proteome.Analysis of Mitochondrial Respiratory Chain Supercomplexes Using Blue Native Polyacrylamide Gel Electrophoresis (BN-PAGE).Ndufaf5 deficiency in the Dictyostelium model: new roles in autophagy and developmentReplacement of the C6ORF66 assembly factor (NDUFAF4) restores complex I activity in patient cells.NDUFAF4 variants are associated with Leigh syndrome and cause a specific mitochondrial complex I assembly defect.High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.Human diseases associated with defects in assembly of OXPHOS complexes
P2860

Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7

Item
http://www.wikidata.org/entity/Q56592348
description
im Mai 2011 veröffentlichter wissenschaftlicher Artikel
@de
scientific article published on 24 May 2011
@en
wetenschappelijk artikel
@nl
наукова стаття, опублікована в травні 2011
@uk
name
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@en
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@nl
type
label
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@en
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@nl
prefLabel
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@en
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698
P356
P1433
P1476
Combined OXPHOS complex I and IV defect, due to mutated complex I assembly factor C20ORF7
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P698