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NDUFAB1 is the mitochondrial acyl carrier protein (ACP) essential for cell viability. Through its pantetheine-4’-phosphate post-translational modification, NDUFAB1 interacts with members of the leucine-tyrosine-arginine motif (LYRM) protein family. Although many LYRM proteins have been well describe...
ORGANISM(S): Homo sapiens (Human) 
2019-10-31 | PXD013706 | Pride
Mitochondrial Complex I harbors 7 mitochondrial and 38 nuclear-encoded subunits. Its biogenesis requires the assembly and integration of distinct intermediate modules, mediated by numerous assembly factors. The Mitochondrial Complex I Intermediate Assembly (MCIA) complex, containing assembly factors...
ORGANISM(S): Homo sapiens (Human) 
2020-04-22 | PXD018075 | Pride
CDKL5 deficiency disorder (CDD) is a rare neurodevelopmental disorder caused by pathogenic variants in the Cyclin-dependent kinase-like 5 (CDKL5) gene, resulting in dysfunctional CDKL5 protein. It predominantly affects females and causes seizures in the first few months of life, ultimately resulting...
ORGANISM(S): Homo sapiens (Human) 
2025-04-28 | PXD063372 | Pride
Sideroflexins (SFXNs) comprise a family of five paralogous proteins (SFXN1-5) in metazoan species. SFXN1/2/3 function as serine transporters and are required for efficient mitochondrial one-carbon (1C) metabolism. SFXN4 is evolutionarily divergent and mutations in SFXN4 give rise to mitochondrial di...
ORGANISM(S): Homo sapiens (Human) 
2022-03-23 | PXD032762 | Pride
Electron transport chain (ETC) biogenesis is tightly coupled to energy levels and availability of ETC subunits. Coenzyme Q: cytochrome c oxidoreductase (complex III or CIII) occupies a central position in the ETC, receiving electrons from diverse fuel sources to control the ubiquinol:ubiquinone (CoQ...
ORGANISM(S): Mus musculus (Mouse) 
2022-09-25 | PXD030258 | Pride
The Australian Acute Care Genomics program provides ultra-rapid diagnostic testing to critically ill infants and children with suspected genetic conditions. Over two years, we performed whole genome sequencing (WGS) in 290 families, with average time to result of 2.9 days, and diagnostic yield of 47...
ORGANISM(S): Homo sapiens (Human) 
2023-10-24 | PXD042001 | Pride
Mitochondria play integral roles in the control of inflammation. Mito-SEPs are small open reading frame-encoded peptides that localize to the mitochondria to regulate oxidative metabolism. Motivated by our observation that mito-SEPs are negatively associated with inflammation, we performed a proteo-...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-08 | PXD024438 | Pride
Mutations in either the mitochondrial or nuclear genomes are associated with a diverse group of human disorders characterized by impaired mitochondrial respiration. Within this group, an increasing number of mutations have been identified in nuclear genes involved in mitochondrial RNA biology. The T...
ORGANISM(S): Homo sapiens (Human) 
2022-11-07 | PXD030427 | Pride
Proteomic analysis of integrin activation-state-dependent adhesion complexes. Adhesion complexes were isolated from K562 cells using activation-state-specific monoclonal antibodies coupled to magnetic beads.Tandem mass spectra were extracted using extract_msn (Thermo Fisher Scientific) executed in M...
ORGANISM(S): Homo sapiens (Human) 
2015-01-26 | PXD000155 | Pride
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