ArticleInternational journal of molecular sciences2024
Morquio A Syndrome: Identification of Differential Patterns of Molecular Pathway Interactions in Bone Lesions.
Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
What it found
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Who cites it
7 citing papers in PubMed, 5 citations in OpenAlex.
- Growth Hormone-Loaded 3D Printed Silk Fibroin-Cellulose Dressings for Ischemic Wounds.Advanced healthcare materials · 2026Article
- The proteome of circulating extracellular vesicles and their functional effect on platelets vary with the isolation method.Scientific reports · 2025Article
- Identification of Surrogate Biomarkers for Mucopolysaccharidosis Type IVA.International journal of molecular sciences · 2025Article
- A Rare Case of Morquio Syndrome in Palestine: Clinical, Radiological, and Genetic Insights.Cureus · 2025Article
- Serum Proteomic Markers in Patients with Systemic Sclerosis in Relation to Silica Exposure.Journal of clinical medicine · 2025Article
- Novel Phenotypical and Biochemical Findings in Mucolipidosis Type II.International journal of molecular sciences · 2025Article
- Comparative Brain Proteomic Analysis between Sham and Cerebral Ischemia Experimental Groups.International journal of molecular sciences · 2024Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 2 countries.
Funding
Abstract
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 (UNT) 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. Identifying biomarkers that reflect MPS IVA clinical course, severity, and progression have important implications for disease management.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.