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TranscriptomicsTranscription profiling by array of human blood from a general population (KORA)
The development of whole genome association studies from the general population has lead to the robust identification of several loci involved in different common human diseases. Interestingly, most of the strongest signals of association observed in these studies arise from non-coding regions, rais...
ORGANISM(S): Homo sapiens 
2013-04-18 | E-MTAB-1174 | biostudies-arrayexpress
ProteomicsQuantification of mitochondrial complexes in DNAJC30 deficient HEK cells
We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). Here we isolated and quantified complexes of the oxidative phosphorylation system (OXPHOS) in DNAJC30 deficient HEK cells.
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD022339 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsProtein turnover rates within mitochondrial complexes in mitochondrial disease patients and in a DNAJC30 knock-out cell line
We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). To determine the turnover rates of modules in complex I and other mitochondrial complexes, we pulsed both patient and control fibroblast cell lines and a DNAJC30 knock-out HEK and cont...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021548 | Pride
Oxidative phosphorylation system Protein turnover Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsComplexome profiling of mitochondrial protein complexes from patients with mutations in either DNAJC30 or ACAD9 compared to an age and gender matched control
We identified the chaperone DNAJC30 as an important factor to maintain NADH:ubiquinone oxidoreductase (complex I) activity. To determine whether DNAJC30 acts as a complex I assembly factor, we used complexome profiling to compare the molecular consequences of DNAJC30 mutations in contrast to defects...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021386 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsComplexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations
We identified the chaperone DNAJC30 as an important factor to maintain NADH:ubiquinone oxidoreductase (complex I) activity. In this complexome analysis we detected DNAJC30 in substoichiometric amounts attached to respiratory supercomplexes (I/III2/IVn and demonstrate an accumulation of complex I con...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021385 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsComplexome profiling of mitochondrial protein complexes to study the molecular consequences of DNAJC30 mutations in HEK cells
We identified the chaperone DNAJC30 as an important factor to maintain NADH:ubiquinone oxidoreductase (complex I) activity. In this complexome analysis we analysed complexes of the oxidative phosphorylation system (OXPHOS) in HEK cells deficient for DNAJC30.
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD022340 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsMitochondrial protein complexes from a patient with mutations in DNAJC30 compared to an age and gender matched healthy control
We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). To determine the consequence of mutations in DNAJC30 on the assembly of complex I we utilized complexome profiling.
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021500 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
ProteomicsDynamic complexome profiling identifies impaired turnover of specific complex I subunits in a patient with mutations in DNAJC30.
We identified DNAJC30 as a key protein in the maintenance of functional NADH:ubiquinone oxidoreductase (complex I). To determine the turnover rates of modules in complex I, we pulsed patient and control fibroblast cell lines over 12 hours with heavy amino acids (PulseSILAC) followed by dynamic compl...
ORGANISM(S): Homo sapiens (Human) 
2021-09-09 | PXD021499 | Pride
Oxidative phosphorylation system Protein turnover Lc-msms Complexome profiling Complex i maintenance Complex i assembly 
TranscriptomicsWhole blood expression profiling from a general population (KORA F4)
The development of whole genome association studies from the general population has lead to the robust identification of several loci involved in different common human diseases. Interestingly, most of the strongest signals of association observed in these studies arise from non-coding regions, rais...
ORGANISM(S): Homo sapiens 
2013-07-13 | E-MTAB-1708 | biostudies-arrayexpress
TranscriptomicsEbf2-GFP in IEO cells
Comparison of Ebf2-expressing bone marrow mesenchymal cells from Ebf2-GFP heterozgous and Ebf2-GFP homozygous (=knock-out) mice
ORGANISM(S): Mus musculus 
2017-12-17 | E-MTAB-2254 | biostudies-arrayexpress
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