Article
Urine-derived renal epithelial cells for deep phenotyping and transcriptomic response to therapy in Fabry disease.
Clinical science (London, England : 1979) - 28 Jul 2025
Sudhindar Praveen Dhondurao, Orr Sarah E, Miller-Hodges Eve, Molinari Elisa, Wood Katrina, Srivastava Shalabh, Miles Colin G, Mabillard Holly R, Sentell Zachary T, Trevisan-Herraz Marco, Arcila-Galvis Juliana E, Sayer John A
Abstract excerpt
Fabry disease is an X-linked lysosomal storage disorder caused by α-galactosidase A deficiency, leading to glycosphingolipid accumulation and progressive organ damage. Renal involvement is a major complication, yet diagnosis often requires an invasive kidney biopsy, and follow-up relies on indirect biomarkers or imaging, which lack specificity. Here, we present human urine-derived renal epithelial cells (hURECs)...
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