| Title: | Transcriptomic approach in understanding Fabry nephropathy : a review of the literature and proof-of-concept |
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| Authors: | ID Breznik, Nika (Author)
ID Levstek, Tina (Author)
ID Vujkovac, Bojan (Author)
ID Cokan Vujkovac, Andreja (Author)
ID Trebušak Podkrajšek, Katarina (Author) |
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| Files: |  PDF - Presentation file, download (922,72 KB)
MD5: B0D18EBC48A49B26C4A0C5181ADFF872
 URL - Source URL, visit https://www.mdpi.com/2073-4425/16/5/601
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| Language: | English |
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| Typology: | 1.01 - Original Scientific Article |
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| Organization: |  UKC LJ - Ljubljana University Medical Centre
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| Abstract: | Background/Objectives: Fabry nephropathy (FN) is a progressive complication of Fabry disease that significantly affects patient outcomes. However, the molecular mechanisms underlying FN are not yet fully understood. Recent advances in transcriptomics have opened new perspectives for the identification of early changes in gene expression associated with the development and progression of the disease. Methods: This study includes a systematic review of transcriptomic findings in chronic kidney disease, with a particular focus on FN, and presents a proof-of-concept RNA sequencing analysis of peripheral blood samples from six Fabry patients with progressive nephropathy and six age- and sex-matched control subjects. Results: The analysis identified 41 differentially expressed genes (DEGs), all of which were upregulated in Fabry patients. Enrichment analysis revealed significant involvement in immune-related pathways, including neutrophil degranulation, interferon, and cytokine signaling. Cell type enrichment revealed that neutrophils and other immune cells are key players in this process. Conclusions: These results suggest that immune and inflammatory mechanisms play a central role in the pathogenesis of FN. The identified DEGs are involved in pro-fibrotic signaling and immune system activation and shed light on possible mechanisms underlying fibrosis, podocyte injury, and kidney damage. This study contributes to a deeper understanding of FN and may faci |
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| Keywords: | Fabry nephropathy, RNA sequencing, transcriptomic, Fabry disease, lysosomal storage disease |
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| Publication status: | Published |
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| Publication version: | Version of Record |
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| Year of publishing: | 2025 |
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| Number of pages: | 1-13 str. |
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| Numbering: | Vol. 16, iss. 5, [article no.] 601 |
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| PID: | 20.500.12556/DiRROS-28935  |
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| UDC: | 577.2 |
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| ISSN on article: | 2073-4425 |
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| DOI: | 10.3390/genes16050601 |
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| COBISS.SI-ID: | 237502467 |
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| Note: | Nasl. z nasl. zaslona;
Opis vira z dne 28. 5. 2025;
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| Publication date in DiRROS: | 14.04.2026 |
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| Views: | 135 |
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| Downloads: | 63 |
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