PXD047134

PXD047134 is an original dataset announced via ProteomeXchange.

Title	Large-scale proteomics analysis of five brain regions from Parkinson’s disease patients with a GBA1 mutation
Description	Despite being the second most common neurodegenerative disorder, little is known about Parkinson’s disease (PD) pathogenesis. A number of genetic factors predispose towards PD, among them mutations in GBA1, which encodes the lysosomal enzyme acid-β-glucosidase. We now perform non-targeted, mass spectrometry based quantitative proteomics on five brain regions from PD patients with a GBA1 mutation (PD-GBA) and compare to age- and sex-matched idiopathic PD patients and controls. Only two proteins were differentially-expressed in all five brain regions whereas significant differences were detected between the brain regions, with changes consistent with loss of dopaminergic neurons in the substantia nigra and activation of a number of pathways in the cingulate gyrus, including ceramide synthesis. Mitochondrial oxidative phosphorylation was inactivated to a larger extent in IPD samples compared to controls and to an even larger extent in PD-GBA. This is the first large-scale proteomics dataset generated for the study of PD-GBA.
HostingRepository	PRIDE
AnnounceDate	2024-02-20
AnnouncementXML	Submission_2024-02-19_19:24:01.209.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Meital Kupervaser
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	acetylated residue; monohydroxylated residue; deamidated residue; iodoacetamide derivatized residue
Instrument	Q Exactive HF

Revision	Datetime	Status	ChangeLog Entry
0	2023-11-21 12:26:09	ID requested
⏵ 1	2024-02-19 19:24:02	announced

Blumenreich S, Nehushtan T, Kupervaser M, Shalit T, Gabashvili A, Joseph T, Milenkovic I, Hardy J, Futerman AH, Large-scale proteomics analysis of five brain regions from Parkinson's disease patients with a GBA1 mutation. NPJ Parkinsons Dis, 10(1):33(2024) [pubmed]

10.1038/s41531-024-00645-x;

submitter keyword: α-synuclein,Lysosomal storage disorders, Parkinson’s disease, Gaucher disease, proteomics.

Anthony H. Futerman
contact affiliation	Department of Biomolecular Sciences, Weizmann Institute of Science, Rehovot 76100, Israel
contact email	tony.futerman@weizmann.ac.il
lab head
Meital Kupervaser
contact affiliation	Weizmann Institute of Science
contact email	meital.kupervaser@weizmann.ac.il
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/2024/02/PXD047134

PRIDE project URI

• PRIDE
  1. PXD047134
     1. Label: PRIDE project
     2. Name: Large-scale proteomics analysis of five brain regions from Parkinson’s disease patients with a GBA1 mutation