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TranscriptomicsOXPHOS complex I deficiency leads to transcriptional changes of the Nrf2-Keap1 pathway and selenoproteins.
Defective complex I (CI) is the most common type of oxidative phosphorylation (OXPHOS) disease in patients, with an incidence of 1 in 5,000 live births. Complex I deficiency can present in infancy or early adulthood and shows a wide variety of clinical manifestations, including Leigh syndrome, (card...
ORGANISM(S): Homo sapiens 
2011-11-01 | E-GEOD-27041 | biostudies-arrayexpress
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (MitoArray)
Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial prot...
ORGANISM(S): Homo sapiens 
2010-06-05 | E-GEOD-8648 | biostudies-arrayexpress
TranscriptomicsGene expression analysis in 13 patients with mitochondrial ATP synthase deficiency (Agilent)
Defects of mitochondrial functions lead in humans to vast array of usually multisystemic pathologies and several hundreds of diseases resulting from various defects of mitochondria biogenesis and maintenance, defects of respiratory chain complexes (OXPHOS) or defects of individual mitochondrial prot...
ORGANISM(S): Homo sapiens 
2008-08-01 | E-GEOD-10956 | biostudies-arrayexpress
GenomicsOXPHOS deficiency activates global adaptation pathways to maintain mitochondrial membrane potential
OXPHOS deficiency activates global adaptation pathways to maintain mitochondrial membrane potential
PRJNA680923 | ENA
UnknownCrif1 deficiency reduces adipose OXPHOS capacity and triggers inflammation and insulin resistance in mice.
Not available
S-EPMC3597503 | biostudies-literature
ProteomicsDefective mitochondrial translation due to loss of COX14 function triggers ROS-induced inflammation in liver
Mitochondrial oxidative phosphorylation (OXPHOS) fuels cellular ATP demands. OXPHOS defects lead to severe human disorders with unexplained tissue specific pathologies. Mitochondrial gene expression is essential for OXPHOS biogenesis since core subunits of the complexes are mitochondrial-encoded. CO...
ORGANISM(S): Mus musculus (Mouse) 
2024-07-25 | PXD041783 | Pride
Mouse Ros Liver Cox14 
UnknownOXPHOS complex deficiency in congenital myopathy: A systematic review.
Not available
S-EPMC12517249 | biostudies-literature
UnknownA novel MRPS34 gene mutation with combined OXPHOS deficiency in an adult patient with Leigh syndrome.
Not available
S-EPMC8662323 | biostudies-literature
UnknownActivation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency.
Not available
S-EPMC5444868 | biostudies-literature
TranscriptomicsOXPHOS complex I deficiency leads to transcriptional changes of the Nrf2-Keap1 pathway and selenoproteins.
Defective complex I (CI) is the most common type of oxidative phosphorylation (OXPHOS) disease in patients, with an incidence of 1 in 5,000 live births. Complex I deficiency can present in infancy or early adulthood and shows a wide variety of clinical manifestations, including Leigh syndrome, (card...
ORGANISM(S): Homo sapiens 
2011-11-01 | GSE27041 | GEO
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