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TranscriptomicsPOLRMT regulates the switch between replication-primer formation and gene expression of mammalian mtDNA
Mitochondria are vital in providing cellular energy via their oxidative phosphorylation system, which requires the coordinated expression of genes encoded by both the nuclear and mitochondrial genomes (mtDNA). Transcription of the circular mammalian mtDNA depends on a single mitochondrial RNA polyme...
ORGANISM(S): Mus musculus 
2016-08-05 | E-GEOD-83368 | biostudies-arrayexpress
ProteomicsCharacterisation of a novel CRLS1 variant in multi-system mitochondrial disease pathogenesis identifies mitochondrial and endoplasmic reticular stress responses to cardiolipin dysfunction
Mitochondrial diseases (MD) are a group of inherited diseases with highly varied and complex clinical presentations and their molecular diagnosis has been improved through next generation sequencing. Here, we report four individuals, two of whom are siblings, affected by a progressive mitochondrial ...
ORGANISM(S): Homo sapiens (Human) 
2023-03-06 | PXD029861 | Pride
Dia Mitochondrial disease Mitochondria Fibroblast Human 
ProteomicsMulti-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer
Prostate cancer is the most commonly diagnosed malignancy and the second leading cause of cancer deaths in men. GWAS studies have identified variants associated with prostate cancer susceptibility, however, mechanistic and functional validation of these mutations are lacking. Mitochondrial energy me...
ORGANISM(S): Mus musculus (Mouse) 
2023-04-19 | PXD033891 | Pride
Rna processing Dia Mitochondria Gene expression Prostate cancer susceptibility 
ProteomicsSLC25-family transporters of choline and branched-chain and methylated amino acids regulate mitochondrial protein synthesis
Genome-wide knock out screen identified members of the SLC25 family of mitochondrial carrier proteins as important regulators of the rate of de novo mitochondrial protein synthesis. To elucidate this relationship, we generated human cell knockouts for SLC25A25, SLC25A44, SLC25A45, and SLC25A48, whic...
ORGANISM(S): Homo sapiens (Human) 
2025-12-19 | PXD066637 | Pride
Omics Metabolite transport Transporters Lipidomics Mitochondria Energy metabolism 
ProteomicsFidelity of translation initiation is required for coordinated respiratory complex assembly
Mammalian mitochondrial ribosomes are unique molecular machines that translate 11 leaderless mRNAs. To date it is not clear how mitoribosomes recognize and initiate translation in the absence of untranslated regions in the mitochondrial mRNAs. Translation initiation in mitochondria shares similariti...
ORGANISM(S): Mus musculus (Mouse) 
2020-01-02 | PXD015521 | Pride
Ribosome Translation Cardiomyopathy Rna-seq 
ProteomicsCopy number variation in tRNA isodecoders impairs mammalian development and balanced translation
The number of tRNA isodecoder genes has increased dramatically in mammals, but the specific molecular and physiological reasons for this expansion remain elusive. To address this fundamental question we used CRISPR editing to knockout the seven-membered phenylalanine tRNA gene family in mice, both i...
ORGANISM(S): Mus musculus (Mouse) 
2023-04-19 | PXD029684 | Pride
Brain Mouse Liver 
ProteomicsTANGO2 binds crystallin alpha B and its loss causes desminopathy
Mutations in the TANGO2 gene cause an autosomal recessive disorder characterised by developmental delay, stress-induced episodic rhabdomyolysis, and cardiac arrhythmias along with severe metabolic crises. Although TANGO2 mutations result in a well characterised disease pathology, the function of TAN...
ORGANISM(S): Mus musculus (Mouse) Homo sapiens (Human) 
2025-04-22 | PXD056037 | Pride
Human Heart Dia Brain Liver Mouse Tango2 
ProteomicsMitochondrial mistranslation is modulated by metabolic stress
Changes in the rate and fidelity of mitochondrial protein synthesis impact the metabolic and physiological roles of mitochondria. Here we explored how environmental stress in the form of a high fat diet modulates mitochondrial translation using mutant mice with error-prone (Mrps12ep/ep) or hyper-acc...
ORGANISM(S): Mus musculus (Mouse) 
2021-09-09 | PXD021762 | Pride
Metabolism Mitochondria Protein synthesis 
ProteomicsTANGO2 binds crystallin alpha B and its loss causes desminopathy
BioID experiment looking at interactors of the protein cryab with/without presence of TANGO2
ORGANISM(S): Homo sapiens (Human) 
2025-06-16 | PXD055705 | Pride
Tango2 Mitochondria Desminopathy 
TranscriptomicsHierarchical RNA processing is rate limiting for mitochondrial ribosome assembly
In animals the organization of the compact mitochondrial genome and lack of introns have necessitated a unique mechanism for RNA processing. To date the regulation of mitochondrial RNA processing and its importance for ribosome biogenesis and energy metabolism are not clear. To understand the in viv...
ORGANISM(S): Mus musculus 
2016-08-04 | E-GEOD-83471 | biostudies-arrayexpress
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