Molecular genetics and metabolismHumansFabry DiseaseMaleDisease ProgressionFemale
A non-coding signature in SHROOM3 is associated with kidney disease progression in Fabry disease.
Tina Levstek, Nika Breznik, Kaja Balant Marin, Tisa Podkrajšek, Bojan Vujkovac, Albina Nowak, João-Paulo Oliveira, Gabriela Dostálová, Aleš Linhart, Markéta Šafaříková, Gheona Altarescu, Katarina Trebušak Podkrajšek
Published: 202610.1016/j.ymgme.2025.109710
Abstract
Fabry disease is a rare, X-linked lysosomal storage disorder that often leads to progressive kidney dysfunction. Despite carrying the same pathogenic GLA variant, patients exhibit considerable variability in the onset and progression of Fabry nephrop…
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