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ProteomicsBiallelic variants in the mitochondrial ribosomal protein MRPL49 cause combined oxidative phosphorylation deficiency
Combined oxidative phosphorylation deficiency (COXPD) is a rare, multisystem disorder that exhibits significant clinical and genetic heterogeneity. Through genome sequencing, we identified biallelic variants in MRPL49 in individuals from five unrelated families. These individuals presented a spectru...
ORGANISM(S): Homo sapiens (Human) 
2025-03-04 | PXD056347 | Pride
Perrault syndrome Rare disease Mitochondrial large ribosomal subunit Mrpl49 Mitoribosome Combined oxidative phosphorylation deficiency 
ProteomicsSupernumerary proteins of the mitochondrial ribosomal small subunit are integral for assembly and translation
Mitochondrial ribosomes (mitoribosomes) have undergone substantial structural remodelling throughout evolution leading to distinct structural properties compared to their prokaryotic ancestors. Compared to their prokaryotic counterparts, mitoribosomes show a substantial loss of ribosomal RNA (rRNA),...
ORGANISM(S): Homo sapiens (Human) 
2024-08-09 | PXD034224 | Pride
Disulfide relay system Ims Mia40/chchd4 Crispr/cas9 Mitochondrial disorders Ms37/chchd1 Mitochondrial ribosome Translation 
UnknownFragmentation of the large subunit ribosomal RNA gene in oyster mitochondrial genomes.
Not available
S-EPMC2996981 | biostudies-literature
UnknownThe conserved interaction of C7orf30 with MRPL14 promotes biogenesis of the mitochondrial large ribosomal subunit and mitochondrial translation.
Not available
S-EPMC3564531 | biostudies-literature
UnknownC7orf30 specifically associates with the large subunit of the mitochondrial ribosome and is involved in translation.
Not available
S-EPMC3351149 | biostudies-literature
UnknownSupernumerary proteins of the human mitochondrial ribosomal small subunit are integral for assembly and translation.
Not available
S-EPMC11251090 | biostudies-literature
UnknownThe mitochondrial ribosomal protein of the large subunit, Afo1p, determines cellular longevity through mitochondrial back-signaling via TOR1.
Not available
S-EPMC2806038 | biostudies-literature
UnknownContacts between mammalian mitochondrial translational initiation factor 3 and ribosomal proteins in the small subunit.
Not available
S-EPMC3223260 | biostudies-literature
ProteomicsStructure of the full kinetoplastids mitoribosome and insight on its large subunit maturation
Kinetoplastids are unicellular eukaryotic parasites responsible for human pathologies such as Chagas disease, sleeping sickness or Leishmaniasis1. They possess a single large mitochondrion, essential for the parasite survival2. In kinetoplastids mitochondrion, most of the molecular machineries and g...
ORGANISM(S): Leishmania tarentolae Trypanosoma cruzi cruzi 
2021-04-29 | PXD018981 | Pride
Leishmania Kinetoplastids Trypanosoma Mitochondria Ribosome Mitoribosome 
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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