PXD042166 is an
original dataset announced via ProteomeXchange.
Dataset Summary
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 |
Dataset History
Revision | Datetime | Status | ChangeLog Entry |
0 | 2023-05-12 01:32:31 | ID requested | |
⏵ 1 | 2024-05-24 02:11:42 | announced | |
Publication List
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; |
Keyword List
submitter keyword: Morquio A syndrome, rare disease, SWATH-MS, Protein Biomarker |
Contact List
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 | |
Full Dataset Link List
Dataset FTP location
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PRIDE project URI |
Repository Record List
[ + ]
[ - ]
- PRIDE
- PXD042166
- Label: PRIDE project
- Name: Morquio A syndrome: identification of differential patterns of molecular pathway interactions in bone lesions