Proteomics

Dataset Information

0

Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFAF8 gene


ABSTRACT: 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.

INSTRUMENT(S): Q Exactive

ORGANISM(S): Homo Sapiens (human)

TISSUE(S): Cell Culture, Fibroblast

SUBMITTER: Ilka Wittig  

LAB HEAD: Robert Taylor

PROVIDER: PXD015749 | Pride | 2020-03-05

REPOSITORIES: Pride

Dataset's files

Source:
Action DRS
Complexome_Data.xlsx Xlsx
Gel.jpg Other
MaxQuant_Output.zip Other
P17_081_Taylor_NDUFAF8_Ctrl_Digitonin_01.raw Raw
P17_081_Taylor_NDUFAF8_Ctrl_Digitonin_02_170815072710.raw Raw
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Publications


Leigh syndrome is one of the most common neurological phenotypes observed in pediatric mitochondrial disease presentations. It is characterized by symmetrical lesions found on neuroimaging in the basal ganglia, thalamus, and brainstem and by a loss of motor skills and delayed developmental milestones. Genetic diagnosis of Leigh syndrome is complicated on account of the vast genetic heterogeneity with >75 candidate disease-associated genes having been reported to date. Candidate genes are still e  ...[more]

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