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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 
TranscriptomicsTranscription profiling of human fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency vs normal fibroblast RNA
Comparison of fibroblast RNA from patient with a mitochondrial oxidative phosphorylation complex I deficency to normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelaide, H.sap...
ORGANISM(S): Homo sapiens 
2004-09-01 | E-MEXP-118 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of human fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation complex I deficiency vs normal fibroblast RNA
Comparison of fibroblast RNA from a patient with a mitochondrial oxidative phosphorylation comnplex I deficiency against normal fibroblast RNA.

Note: this experiment submission is not fully MIAME compliant, due to the unavailability of oligonucleotide sequences on the A-MEXP-70 array ("Adelai...
ORGANISM(S): Homo sapiens 
2004-09-01 | E-MEXP-119 | biostudies-arrayexpress
GenomicsDNase I hypersensitive sites in two tissues of rice
Gene expression is controlled by the complex interaction of transcription factors binding to promoters and other regulatory DNA elements. One common characteristic of the genomic regions associated with regulatory proteins is a pronounced sensitivity to DNase I digestion. We generated genome-wide ...
ORGANISM(S): Oryza sativa 
2011-11-09 | E-GEOD-26610 | biostudies-arrayexpress
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 
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 
ProteomicsIdentification of the components of PRDM14 complex in ESCs
We investigated the N-terminal domain of PRDM14, which has no discernable functional domain, and its contribution to the maintenance of pluripotency. We performed a mass spectrometry analysis of the PRDM14-containing complex to disclose partner molecules that bind to the N-terminal domain of PRDM14.
ORGANISM(S): Mus Musculus (mouse) 
2020-08-03 | PXD020571 | JPOST Repository
TranscriptomicsChromosomal association of the Smc5/6 complex reveals that it functions in differently regulated pathways
The SMC protein complexes safeguard genomic integrity through their functions in chromosome segregation and repair. The chromosomal localization of the budding yeast Smc5/6 complex here determined reveals that the complex works specifically on the duplicated genome in differently regulated pathways....
ORGANISM(S): Saccharomyces cerevisiae 
2010-06-11 | E-GEOD-4808 | biostudies-arrayexpress
TranscriptomicsSpo13 facilitates monopolin recruitment to kinetochores and regulates maintenance of centromeric cohesion
BACKGROUND: Cells undergoing meiosis perform two consecutive divisions after a single round of DNA replication. During the first meiotic division, homologous chromosomes segregate to opposite poles. This is achieved by (1) the pairing of maternal and paternal chromosomes via recombination producing ...
ORGANISM(S): Saccharomyces cerevisiae 
2010-06-11 | E-GEOD-4813 | biostudies-arrayexpress
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