New Glycoside Hydrolases Findings Has Been Reported by Investigators at University 'Magna Graecia' Catanzaro [C.376a>g, (P.ser126gly) Alpha-galactosidase a Mutation Induces Er Stress, Unfolded Protein Response and Reduced Enzyme Trafficking To...].

A new report discusses research findings on glycoside hydrolases, specifically focusing on Fabry Disease (FD), a metabolic lysosomal storage disorder. The deficient activity of Alpha-Galactosidase A (Alpha-Gal), a lysosomal hydrolase, is responsible for FD. The researchers studied a specific mutation, c.376A > G (p.Ser126Gly), and found that it induces unfolded protein response (UPR) and reduces enzyme trafficking to the lysosome. This mutation may trigger a different pathogenetic mechanism compared to other missense mutations, potentially leading to irreversible cell damage. [Extracted from the article]

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