PXD001598

PXD001598 is an original dataset announced via ProteomeXchange.

Title	Elevated gpNMB in type 1 Gaucher disease patients
Description	Gaucher disease (GD) is characterized by the presence of glucosylceramide-laden macrophages (Gaucher cells) as the result of deficiency in the lysosomal hydrolase glucocerebrosidase (GBA). Non-neuronopathic type 1 GD is effectively treated by infusions with macrophage-targeted recombinant glucocerebrosidase. We here report how LC-MSE analysis of the proteome of laser-dissected splenic Gaucher cells revealed high expression of several proteins amongst which was gpNMB. This was confirmed by histochemistry and RNA quantification. Macrophages produce gpNMB as membrane protein but release soluble fragments. In plasma of symptomatic Gaucher patients (n=59) soluble gpNMB was next found to be on average 25-fold increased prior to treatment, without overlap with control values, (control mean: 20 ng/ml; range 11-34 ng/ml vs. GD mean: 495 ng/ml; range: 137-1283 ng/ml).
HostingRepository	PRIDE
AnnounceDate	2024-10-22
AnnouncementXML	Submission_2024-10-22_04:21:55.598.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Gertjan Kramer
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	monohydroxylated residue; iodoacetamide derivatized residue
Instrument	Synapt MS

Revision	Datetime	Status	ChangeLog Entry
0	2014-12-12 01:55:45	ID requested
1	2016-09-27 09:26:36	announced
⏵ 2	2024-10-22 04:21:56	announced	2024-10-22: Updated project metadata.

Kramer G, Wegdam W, Donker-Koopman W, Ottenhoff R, Gaspar P, Verhoek M, Nelson J, Gabriel T, Kallemeijn W, Boot RG, Laman JD, Vissers JP, Cox T, Pavlova E, Moran MT, Aerts JM, van Eijk M, Elevation of glycoprotein nonmetastatic melanoma protein B in type 1 Gaucher disease patients and mouse models. FEBS Open Bio, 6(9):902-13(2016) [pubmed]

10.1002/2211-5463.12078;

curator keyword: Biomedical

submitter keyword: gpNMB,LCMSE, Gaucher Disease, Proteomics, Biomarker

J.M.F.G. Aerts
contact affiliation	Clinical Proteomics Facility, Medical Biochemistry, Academic Medical Center, University of Amsterdam
contact email	j.m.aerts@amc.uva.nl
lab head
Gertjan Kramer
contact affiliation	Proteomics of Stem Cells and Cancer. University Clinic Heidelberg. German Cancer Research Center. Im Neuenheimer Feld 581 Heidelberg, Germany.
contact email	gertjan.kramer@dkfz-heidelberg.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/2016/09/PXD001598

PRIDE project URI

• PRIDE
  1. PXD001598
     1. Label: PRIDE project
     2. Name: Elevated gpNMB in type 1 Gaucher disease patients