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PXD042166

PXD042166 is an original dataset announced via ProteomeXchange.

Dataset Summary
TitleMorquio A syndrome: identification of differential patterns of molecular pathway interactions in bone lesions
DescriptionMucopolysaccharidosis 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.
HostingRepositoryPRIDE
AnnounceDate2024-05-24
AnnouncementXMLSubmission_2024-05-24_02:11:41.527.xml
DigitalObjectIdentifier
ReviewLevelPeer-reviewed dataset
DatasetOriginOriginal dataset
RepositorySupportUnsupported dataset by repository
PrimarySubmitterSusana Bravo
SpeciesList scientific name: Mus musculus (Mouse); NCBI TaxID: 10090;
ModificationListNo PTMs are included in the dataset
InstrumentTripleTOF 6600
Dataset History
RevisionDatetimeStatusChangeLog Entry
02023-05-12 01:32:31ID requested
12024-05-24 02:11:42announced
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 affiliationInstituto de Investigaciones sanitarias de Santiago de Compostela
contact emailsbbravo@gmail.com
lab head
Susana Bravo
contact affiliationFIDIS
contact emailsbbravo@gmail.com
dataset submitter
Full Dataset Link List
Dataset FTP location
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Repository Record List
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