ArticleJournal of medical genetics2017
Fabry disease: characterisation of the plasma proteome pre- and post-enzyme replacement therapy.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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Who cites it
21 citing papers in PubMed, 31 citations in OpenAlex.
- Immuno-Inflammatory Profiling and Complement Activation in Fabry Disease: A Cross-Sectional Study.International journal of molecular sciences · 2026Article
- Current status of the immunogenicity of enzyme replacement therapy in fabry disease.Orphanet journal of rare diseases · 2025Review
- Neuraminidase 1 regulates neuropathogenesis by governing the cellular state of microglia via modulation of Trem2 sialylation.Cell reports · 2025Article
- Case Report: Fabry disease overlapping with systemic lupus erythematosus in a pediatric patient.Frontiers in immunology · 2025Article
- Human sensory-like neuron surfaceome analysis.PloS one · 2025Article
- Complement System and Adhesion Molecule Skirmishes in Fabry Disease: Insights into Pathogenesis and Disease Mechanisms.International journal of molecular sciences · 2024Review
- In Silico Modeling of Fabry Disease Pathophysiology for the Identification of Early Cellular Damage Biomarker Candidates.International journal of molecular sciences · 2024Article
- Role of the Innate Immune Response in Glomerular Disease Pathogenesis: Focus on Podocytes.Cells · 2024Review
- Inflammation in Fabry disease: stages, molecular pathways, and therapeutic implications.Frontiers in cardiovascular medicine · 2024Review
- Complement activation and cellular inflammation in Fabry disease patients despite enzyme replacement therapy.Frontiers in immunology · 2024Article
- Exploring Pro-Inflammatory Immunological Mediators: Unraveling the Mechanisms of Neuroinflammation in Lysosomal Storage Diseases.Biomedicines · 2023Review
- Proteomic Approaches and Potential Applications in Autosomal Dominant Polycystic Kidney Disease and Fabry Disease.Diagnostics (Basel, Switzerland) · 2023Review
- Enzyme Replacement Therapy for FABRY Disease: Possible Strategies to Improve Its Efficacy.International journal of molecular sciences · 2023Article
- Gene Expression Analysis inInternational journal of molecular sciences · 2022Article
- Mass spectrometry-based proteomics in neurodegenerative lysosomal storage disorders.Molecular omics · 2022Review
- Parsing Fabry Disease Metabolic Plasticity Using Metabolomics.Journal of personalized medicine · 2021Article
- De Novo Development of mtDNA Deletion Due to Decreased POLG and SSBP1 Expression in Humans.Genes · 2021Article
- Biomarkers in Anderson-Fabry Disease.International journal of molecular sciences · 2020Review
- Review
- A Proteomics-Based Analysis Reveals Predictive Biological Patterns in Fabry Disease.Journal of clinical medicine · 2020Article
Corrections and comments
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Authors and funding
15 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFabry disease is characterised by the progressive accumulation of globotriaosylceramide (Gb3) and related glycosphingolipids in vascular endothelial cells. Enzyme replacement therapy (ERT) clears this accumulation. We analysed plasma proteome profiles before and after ERT to characterise its molecular pathology.
methodsTwo-dimensional electrophoresis and matrix-assisted laser desorption/ionisation-time of flight tandem mass spectrometry (MALDI-TOF MS) and tandem mass spectrometry (MS/MS) were done using plasma samples before and after ERT in eight patients with classical Fabry disease
resultsAfter short-term ERT (4-12 months), the levels of 15 plasma proteins involved in inflammation, oxidative and ischaemic injury, or complement activation were reduced significantly. Among them, β-actin (ACTB), inactivated complement C3b (iC3b), and C4B were elevated significantly in pre-ERT Fabry disease plasma compared with control plasma. After longer-term ERT (46-96 months), iC3b levels gradually decreased, whereas the levels of other proteins varied. The gradual reduction of iC3b was comparable to that of Gb3 levels. In addition, iC3b increased significantly in pre-ERT Fabry disease mouse plasma, and C3 deposits were notable in renal tissues of pre-enzyme replacement therapy patients.
conclusionThese results indicated that C3-mediated complement activation might be altered in Fabry disease and ERT might promote its stabilisation.
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