PXD042166

PXD042166 is an original dataset announced via ProteomeXchange.

Title	Morquio A syndrome: identification of differential patterns of molecular pathway interactions in bone lesions
Description	Mucopolysaccharidosis type IVA (MPS IVA; Morquio A syndrome) is a rare autosomal recessive lysosomal storage disease (LSD) caused by deficiency of a hydrolase enzyme, N-acetylgalactosamine-6-sulfate sulfatase, and characterized clinically by mainly musculoskeletal manifestations. The mechanisms underlying bone involvement in humans are typically explored using invasive techniques such as bone biopsy, which complicates analysis in humans. We compared bone proteomes using DDA and SWATH-MS in wild-type and MPS IVA knockout mice to obtain mechanistic information about the disease. Our findings reveal over 1000 dysregulated proteins in knockout mice, including those implicated in oxidative phosphorylation, oxidative stress (reactive oxygen species), DNA damage, and iron transport, and suggest that lactate dehydrogenase may constitute a useful prognostic and follow-up biomarker. The identification of biomarkers that reflect MPS IVA clinical course, severity, and progression have important implications for disease management.
HostingRepository	PRIDE
AnnounceDate	2024-05-24
AnnouncementXML	Submission_2024-05-24_02:11:41.527.xml
DigitalObjectIdentifier
ReviewLevel	Peer-reviewed dataset
DatasetOrigin	Original dataset
RepositorySupport	Unsupported dataset by repository
PrimarySubmitter	Susana Bravo
SpeciesList	scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationList	No PTMs are included in the dataset
Instrument	TripleTOF 6600

Revision	Datetime	Status	ChangeLog Entry
0	2023-05-12 01:32:31	ID requested
⏵ 1	2024-05-24 02:11:42	announced

Á, lvarez JV, Bravo SB, Chantada-V, á, zquez MP, Pena C, Col, ó, n C, Tomatsu S, Otero-Espinar FJ, Couce ML, Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions. Int J Mol Sci, 25(6):(2024) [pubmed]

10.3390/ijms25063232;

submitter keyword: Morquio A syndrome, rare disease, SWATH-MS, Protein Biomarker

Susana Belén Bravo López
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/2024/05/PXD042166

PRIDE project URI

• PRIDE
  1. PXD042166
     1. Label: PRIDE project
     2. Name: Morquio A syndrome: identification of differential patterns of molecular pathway interactions in bone lesions