ArticleFrontiers in physiology2026
Renal proteomic landscape of a patient with Fanconi renotubular syndrome carrying a novel GATM variant.
Article in Frontiers in physiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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10 authors.
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Abstract
Background: Fanconi renotubular syndrome (FRTS) is a rare Mendelian disorder characterized by proximal tubular dysfunction. FRTS type 1 (FRTS1) has been associated with heterozygous variants in Methods: Proteomic profiling was conducted on formalin-fixed paraffin-embedded renal biopsy tissue obtained from a patient with FRTS carrying a novel heterozygous missense variant in Results: Beyond the identification of a novel Conclusions: This study represents the first proteomic profiling of FRTS in its native tissue context. The identified proteomic alterations provide an exploratory framework for understanding renal tissue changes associated with FRTS and establish a resource for future validation studies.
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