PXD001654-2

PXD001654 is an original dataset announced via ProteomeXchange.

Title	Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease
Description	Gaucher disease, a recessive inherited metabolic disorder caused by defects in the gene encoding glucosylceramidase (GlcCerase), can be divided into three subtypes according to the appearance of symptoms associated with central nervous system involvement. We now identify a protein, glycoprotein non-metastatic B (GPNMB), that acts as an authentic marker of brain pathology in neurological forms of Gaucher disease. Using three independent techniques, including quantitative global proteomic analysis of cerebrospinal fluid (CSF) in samples from Gaucher disease patients that display neurological symptoms, we demonstrate a correlation between the severity of symptoms and GPNMB levels. Moreover, GPNMB levels in the CSF correlate with disease severity in a mouse model of Gaucher disease. GPNMB was also elevated in brain samples from patients with type 2 and 3 Gaucher disease. Our data suggest that GPNMB can be used as a marker to quantify neuropathology in Gaucher disease patients and as a marker of treatment efficacy once suitable treatments towards the neurological symptoms of Gaucher disease become available.
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_04:22:27.947.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Yishai Levin
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Q Exactive

Revision	Datetime	Status	ChangeLog Entry
0	2015-01-06 01:51:01	ID requested
1	2016-06-24 08:46:01	announced
⏵ 2	2024-10-22 04:22:30	announced	2024-10-22: Updated project metadata.

Zigdon H, Savidor A, Levin Y, Meshcheriakova A, Schiffmann R, Futerman AH, Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease. PLoS One, 10(3):e0120194(2015) [pubmed]

10.1371/journal.pone.0120194;

curator keyword: Biomedical

submitter keyword: CSF, Gaucher, Proteomics

Yishai Levin
contact affiliation	The de Botton Institute for Protein Profiling, Nancy and Stephen Grand Israel National Center for Personalized Medicien, Weizmann Insitute of Science
contact email	yishai.levin@weizmann.ac.il
lab head
Yishai Levin
contact affiliation	Weizmann Institute of Science, Israel
contact email	yishai.levin@gmail.com
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/2016/06/PXD001654

PRIDE project URI

• PRIDE
  1. PXD001654
     1. Label: PRIDE project
     2. Name: Identification of a biomarker in cerebrospinal fluid for neuronopathic forms of Gaucher disease