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- W2046811142 abstract "Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the GLA gene often leading to missense α-galactosidase A (α-Gal A) variants that undergo premature endoplasmic reticulum-associated degradation due to folding defects. We have synthesized and characterized a new family of neutral amphiphilic pharmacological chaperones, namely 1-deoxygalactonojirimycin-arylthioureas (DGJ-ArTs), capable of stabilizing α-Gal A and restoring trafficking. Binding to the enzyme is reinforced by a strong hydrogen bond involving the aryl-N′H thiourea proton and the catalytic aspartic acid acid D231 of α-Gal A, as confirmed by a 2.55 Å resolution cocrystal structure. Selected candidates enhanced α-Gal A activity and ameliorate globotriaosylceramide (Gb3) accumulation and autophagy impairments in FD cell cultures. Moreover, they acted synergistically with the proteostasis regulator 4-phenylbutyric acid, appearing to be promising leads as pharmacological chaperones for FD." @default.
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- W2046811142 date "2014-05-12" @default.
- W2046811142 modified "2023-10-02" @default.
- W2046811142 title "Molecular Basis of 1-Deoxygalactonojirimycin Arylthiourea Binding to Human α-Galactosidase A: Pharmacological Chaperoning Efficacy on Fabry Disease Mutants" @default.
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- W2046811142 doi "https://doi.org/10.1021/cb500143h" @default.
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