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c.376A>G, (p.Ser126Gly) Alpha-Galactosidase A mutation induces ER stress, unfolded protein response and reduced enzyme trafficking to lysosome: Possible relevance in the pathogenesis of late-onset forms of Fabry Disease.
Riillo C, Bonapace G, Moricca MT, Sestito S, Salatino A, Concolino D. Riillo C, et al. Among authors: salatino a. Mol Genet Metab. 2023 Nov;140(3):107700. doi: 10.1016/j.ymgme.2023.107700. Epub 2023 Sep 14. Mol Genet Metab. 2023. PMID: 37774431 Free article.
134 results