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MetabolomicsCardiac disruption of SDHAF4-mediated mitochondrial complex II assembly promotes dilated cardiomyopathy
Succinate dehydrogenase, which is known as mitochondrial complex II, has proven to be a fascinating machinery, attracting renewed and increased interest in its involvement in human diseases. Herein, we find that succinate dehydrogenase assembly factor 4 (SDHAF4) is downregulated in cardiac muscle in...
2022-08-12 | MTBLS4579 | MetaboLights
ProteomicsHuman Tim8a, Tim8b and Tim13 are auxiliary assembly factors of mature Complex IV
Human Tim8a and Tim8b are paralogous intermembrane space proteins of the small TIM chaperone family. Yeast small TIMs function in the trafficking of proteins to the outer and inner mitochondrial membranes. This putative import function for hTim8a and hTim8b has been challenged in human models, but t...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD037906 | Pride
Small tims Protein trafficking Mitochondria Protein assembly Complex iv 
ProteomicsHIGD2A is required for assembly of the COX3 module of human mitochondrial complex IV
Assembly factors play a critical role in the biogenesis of mitochondrial respiratory chain complexes I-IV where they assist in the membrane insertion of subunits, attachment of co-factors, and stabilization of assembly intermediates. The major fraction of complexes I, III and IV are present together...
ORGANISM(S): Homo sapiens (Human) 
2020-04-22 | PXD016864 | Pride
Assembly factor Cytochrome c oxidase Hypoxia Respirasome Oxphos 
GenomicsEic1 links Mis18 with the CCAN/Mis6/Ctf19 complex to promote CENP-A assembly
CENP-A chromatin the foundation for kinetochore assembly in all eukaryotes. CENP-A is incorporated outside of S phase and depends on its chaperone HJURPScm3, and Mis18 in vertebrates and fission yeast. The recruitment of Mis18 and HJURPScm3 to centromeres is cell cycle regulated. Vertebrate Mis18 a...
ORGANISM(S): Schizosaccharomyces pombe 
2014-05-19 | E-GEOD-54685 | biostudies-arrayexpress
GenomicsH3K4me3 Interactions with TAF3 Regulate Preinitiation Complex Assembly and Selective Gene Activation [ChIP-Seq]
Histone modifications regulate chromatin-dependent processes, yet the mechanisms by which they contribute to specific outcomes remain unclear. H3K4me3 is a prominent histone mark that is associated with active genes and promotes transcription through interactions with effector proteins that include ...
ORGANISM(S): Homo sapiens 
2013-03-02 | E-GEOD-43539 | biostudies-arrayexpress
TranscriptomicsH3K4me3 Interactions with TAF3 Regulate Preinitiation Complex Assembly and Selective Gene Activation [HIT-Seq]
Histone modifications regulate chromatin-dependent processes, yet the mechanisms by which they contribute to specific outcomes remain unclear. H3K4me3 is a prominent histone mark that is associated with active genes and promotes transcription through interactions with effector proteins that include ...
ORGANISM(S): Mus musculus 
2013-03-02 | E-GEOD-43540 | biostudies-arrayexpress
ProteomicsMitochondrial COA7 is a heme-binding protein with disulfide reductase activity, which is involved in the early stages of complex IV assembly
Cytochrome c oxidase assembly factor 7 (COA7) is a metazoan-specific assembly factor, critical for the biogenesis of mitochondrial complex IV (cytochrome c oxidase). Although mutations in COA7 have been linked to complex IV assembly defects and neurological conditions such as peripheral neuropathy, ...
ORGANISM(S): Homo sapiens (Human) 
2022-03-23 | PXD031589 | Pride
Cox Heme X-ray crystallography Mitochondria Cytochrome c oxidase Coa7 
ProteomicsComplexome profiling of mitochondrial protein complexes from CRISPR/Cas9 edited U2OS cells lacking COA5
Mitochondria are complex cellular organelles that harness the process of oxidative phosphorylation (OXPHOS) to provide a usable energy source for the cell and body. The failure of mitochondria to achieve this is associated with a wide spectrum of disorders that affect both children and adults with a...
ORGANISM(S): Homo sapiens (Human) 
2025-01-07 | PXD053461 | Pride
Oxidative phosphorylation system Complex iv assembly Lc-msms Complexome profiling 
ProteomicsRTN4IP1 is essential for the final stages of mitochondrial complex I assembly
A biochemical deficiency of mitochondrial complex I (CI) underlies ~30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in ...
ORGANISM(S): Homo sapiens (Human) 
2025-08-08 | PXD055511 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i assembly 
TranscriptomicsH3K4me3 Interactions with TAF3 Regulate Preinitiation Complex Assembly and Selective Gene Activation [Illumina BeadArray]
Histone modifications regulate chromatin-dependent processes, yet the mechanisms by which they contribute to specific outcomes remain unclear. H3K4me3 is a prominent histone mark that is associated with active genes and promotes transcription through interactions with effector proteins that include ...
ORGANISM(S): Homo sapiens 
2013-03-02 | E-GEOD-43541 | biostudies-arrayexpress
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