PXD045528

PXD045528 is an original dataset announced via ProteomeXchange.

Title	Characterization of Plasma Proteomic Profile in Fabry Disease: Potential gender- and clinical phenotype-specific Biomarkers
Description	Fabry disease (FD) is a rare metabolic disorder of X-linked lysosomal storage caused by mutations of the GLA gene that induce a deficiency in the activity of the enzyme α-galactosidase A (α-GalA). This deficiency leads to the lysosomal accumulation of globotriaosylsphingosine (lyso-GB3), resulting in multisystem involvement. Clinical heterogeneity, frequent inconclusive results in biochemical and genetic tests, and the lack of compensation between these markers and clinical evolution often represent a significant challenge in early diagnosis and in the evolutionary prediction of the disease. For this reason, we propose as the study's main objective the identification of new biomarkers of FD that help to understand in depth the disease’s pathophysiology and biomarkers that help to predict the clinical phenotype of the disease. For this purpose, we compared the plasma from 50 patients with FD and 50 healthy controls, matched by sex and age, by a quantitative mass spectrometry study (SWATH-MS). This study has managed to identify more than 30 proteins significantly differentially expressed between patients with FD and healthy controls, also stratifying the results according to sex. Furthermore, the comparative analysis between the predominant clinical phenotypes identifies differential proteomic profiles between the clinical manifestations. These results will help to deepen and discuss the presence of potential biomarkers that will increase the pathophysiological knowledge of FD and the heterogeneity in the presentation of clinical manifestations.
HostingRepository	PRIDE
AnnounceDate	2024-04-23
AnnouncementXML	Submission_2024-04-23_01:02:19.011.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Susana Bravo
SpeciesList	scientific name: Homo sapiens (Human); NCBI TaxID: 9606;
ModificationList	No PTMs are included in the dataset
Instrument	TripleTOF 6600

Revision	Datetime	Status	ChangeLog Entry
0	2023-09-20 10:34:41	ID requested
⏵ 1	2024-04-23 01:02:19	announced

10.1016/J.TRSL.2024.02.006;

submitter keyword: LC-MSMS,Fabry disease, SWATH-MS

Susana Belén
contact affiliation	Instituto de Investigaciones Sanitarias de Santiago de Compostela
contact email	sbbravo@gmail.com
lab head
Susana Bravo
contact affiliation	FIDIS
contact email	sbbravo@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/2024/04/PXD045528

PRIDE project URI

• PRIDE
  1. PXD045528
     1. Label: PRIDE project
     2. Name: Characterization of Plasma Proteomic Profile in Fabry Disease: Potential gender- and clinical phenotype-specific Biomarkers