PXD015749-1

PXD015749 is an original dataset announced via ProteomeXchange.

Title	Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFAF8 gene
Description	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.
HostingRepository	PRIDE
AnnounceDate	2020-03-05
AnnouncementXML	Submission_2020-03-05_00:22:54.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Ilka Wittig
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2019-10-08 23:38:52	ID requested
⏵ 1	2020-03-05 00:25:25	announced
2	2024-10-22 04:05:56	announced	2024-10-22: Updated project metadata.

Alston CL, Veling MT, Heidler J, Taylor LS, Alaimo JT, Sung AY, He L, Hopton S, Broomfield A, Pavaine J, Diaz J, Leon E, Wolf P, McFarland R, Prokisch H, Wortmann SB, Bonnen PE, Wittig I, Pagliarini DJ, Taylor RW, Pathogenic Bi-allelic Mutations in NDUFAF8 Cause Leigh Syndrome with an Isolated Complex I Deficiency. Am J Hum Genet, 106(1):92-101(2020) [pubmed]

curator keyword: Biomedical

submitter keyword: LC-MSMS, complexome profiling, oxidative phosphorylation system, complex I assembly

Robert Taylor
contact affiliation	Head, NHS Highly Specialised Mitochondrial Diagnostic Laboratory and Professor of Mitochondrial Pathology, Wellcome Centre for Mitochondrial Research, Newcastle University, UK
contact email	robert.taylor@ncl.ac.uk
lab head
Ilka Wittig
contact affiliation	Functional Proteomics, Goethe University, Frankfurt am Main , Germany
contact email	wittig@med.uni-frankfurt.de
dataset submitter

Dataset FTP location NOTE: Most web browsers have now discontinued native support for FTP access within the browser window. But you can usually install another FTP app (we recommend FileZilla) and configure your browser to launch the external application when you click on this FTP link. Or otherwise, launch an app that supports FTP (like FileZilla) and use this address: ftp://ftp.pride.ebi.ac.uk/pride/data/archive/2020/03/PXD015749

PRIDE project URI

• PRIDE
  1. PXD015749
     1. Label: PRIDE project
     2. Name: Complexome profiling of mitochondrial protein complexes from patients with mutation in NDUFAF8 gene