Dataset Information

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

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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

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

Alston Charlotte L CL Veling Mike T MT Heidler Juliana J Taylor Lucie S LS Alaimo Joseph T JT Sung Andrew Y AY He Langping L Hopton Sila S Broomfield Alexander A Pavaine Julija J Diaz Jullianne J Leon Eyby E Wolf Philipp P McFarland Robert R Prokisch Holger H Wortmann Saskia B SB Bonnen Penelope E PE Wittig Ilka I Pagliarini David J DJ Taylor Robert W RW

American journal of human genetics 20191219 1

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]

PMID: 31866046

Dataset Information

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

Dataset's files

Publications

Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency.

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