Proteomics

Dataset Information

0

Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFC2 gene


ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Skin, Fibroblast

SUBMITTER: Ilka Wittig  

LAB HEAD: Robert Taylor

PROVIDER: PXD014936 | Pride | 2020-08-10

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
Complexome.jpg Other
Complexome_data_.xlsx Xlsx
P19_031_NDUFC2_Taylor_M0373_patient_01.raw Raw
P19_031_NDUFC2_Taylor_M0373_patient_02.raw Raw
P19_031_NDUFC2_Taylor_M0373_patient_03.raw Raw
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Publications


Leigh syndrome is a progressive neurodegenerative disorder, most commonly observed in paediatric mitochondrial disease, and is often associated with pathogenic variants in complex I structural subunits or assembly factors resulting in isolated respiratory chain complex I deficiency. Clinical heterogeneity has been reported, but key diagnostic findings are developmental regression, elevated lactate and characteristic neuroimaging abnormalities. Here, we describe three affected children from two u  ...[more]

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