PXD009743-1

PXD009743 is an original dataset announced via ProteomeXchange.

Title	Insights into the pathological mechanisms of MT-ND5 and NDUFS1 mutation in mitochondrial complex I by proteome and metabolome profiling
Description	In this study, we used cell cultures of skin fibroblasts from two patients carrying missense mutations in the core subunit MT-ND5 and NDUFS1 of complex I (CI), respectively. We applied quantitative proteome- and metabolome profiling together with cell respiration assays and conventional biochemical methods to dissect the underlying mechanisms of CI dysfunction. Label-free quantification (LFQ) proteome profiling showed that the N-module of CI was severely downregulated in the NDUFS1 patient, indicating a disassembly of CI, which was further confirmed by Blue Native PAGE (BN PAGE) and Western Blot.
HostingRepository	PRIDE
AnnounceDate	2019-09-30
AnnouncementXML	Submission_2019-09-30_03:39:56.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Yang Ni
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; acetylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive Plus

Revision	Datetime	Status	ChangeLog Entry
0	2018-05-10 23:50:44	ID requested
⏵ 1	2019-09-30 03:39:57	announced
2	2019-10-16 04:09:45	announced	2019-10-16: Updated publication reference for PubMed record(s): 31557978.
3	2024-10-22 04:58:02	announced	2024-10-22: Updated project metadata.

Dataset with its publication pending

curator keyword: Biomedical

submitter keyword: Mitochondrial complex I, MT-ND5, NDUFS1, proteome profiling, metabolome profiling

David Meierhofer
contact affiliation	Mass Spectrometry Facility Max Planck Institute for Molecular Genetics Ihnestrasse 63-73 14195 Berlin GERMANY
contact email	meierhof@molgen.mpg.de
lab head
Yang Ni
contact affiliation	Max Planck Institute for Molecular Genetics
contact email	ni@molgen.mpg.de
dataset submitter

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PRIDE project URI

• PRIDE
  1. PXD009743
     1. Label: PRIDE project
     2. Name: Insights into the pathological mechanisms of MT-ND5 and NDUFS1 mutation in mitochondrial complex I by proteome and metabolome profiling