Laura A Adang, Samar Mowafy, Zackary M Herbst, Zitao Zhou, Lars Schlotawa, Karthikeyan Radhakrishnan, Brenna Bentley, Vi Pham, Emily Yu, Nishitha R Pillai, Paul J Orchard, Mauricio De Castro, Adeline Vanderver, Marzia Pasquali, Michael H Gelb, Rebecca C Ahrens-Nicklas
Sulfatases catalyze essential cellular reactions, including degradation of glycosaminoglycans (GAGs). All sulfatases are post-translationally activated by the formylglycine generating enzyme (FGE) which is deficient in multiple sulfatase deficiency (MSD), a neurodegenerative lysosomal storage disease. Historically, patients were presumed to be deficient of all sulfatase activities; however, a more nuanced relationship is emerging. Each sulfatase may differ in their degree of post-translational modification by FGE, which may influence the phenotypic spectrum of MSD...
October 23, 2023: Journal of Inherited Metabolic Disease