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ProteomicsRTN4IP1 is essential for the final stages of mitochondrial complex I assembly
A biochemical deficiency of mitochondrial complex I (CI) underlies ~30% of cases of primary mitochondrial disease, yet the inventory of molecular machinery required for CI assembly remains incomplete. We previously characterised patients with isolated CI deficiency caused by segregating variants in ...
ORGANISM(S): Homo sapiens (Human) 
2025-08-08 | PXD055511 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i assembly 
ProteomicsComplexome profiling of mitochondria to study NDUFAF1 mediated complex I assembly in Yarrowia lipolytica
The aerobic yeast Yarrowia lipolytica is an established model organism to study mitochondrial protein complexes. Here we performed a complexome analysis of intact mitochondria to study the function of NDUFAF1 in the assembly of respiratory complex I. In the ndufaf1 deletion strain the PD module of t...
ORGANISM(S): Yarrowia lipolytica (Candida lipolytica) 
2022-12-21 | PXD033522 | Pride
Protein complexes 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 
ProteomicsComplexome profiling of mitochondrial protein complexes from patients with mutation in NDUFAF8 gene
NDUFAF8 is an assembly factor of the NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling the functional consequences of NDUFAF8 mutations in patient fibroblasts.
ORGANISM(S): Homo sapiens (Human) 
2020-03-05 | PXD015749 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling Complex i assembly 
ProteomicsComplexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene
NDUFC2 is a subunit of the membrane part of NADH:ubiquinone oxidoreductase (complex I). Here we used complexome profiling to study the role of NDUFC2 in complex I stability and assembly.
ORGANISM(S): Homo sapiens (Human) 
2020-08-10 | PXD014936 | Pride
Oxidative phosphorylation system Lc-msms Complexome profiling 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 
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 
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 
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 
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 
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