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- W4313647411 endingPage "1095" @default.
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- W4313647411 abstract "Fabry disease is a lysosomal storage disease caused by mutations in the GLA gene that encodes alpha-galactosidase (AGAL). The disease causes abnormal globotriaosylceramide (Gb3) storage in the lysosomes. Variants responsible for the genotypic spectrum of Fabry disease include mutations that abolish enzymatic activity and those that cause protein instability. The latter can be successfully treated with small molecules that either bind and stabilize AGAL or indirectly improve its cellular activity. This paper describes the first attempt to reposition curcumin, a nutraceutical, to treat Fabry disease. We tested the efficacy of curcumin in a cell model and found an improvement in AGAL activity for 80% of the tested mutant genotypes (four out of five tested). The fold-increase was dependent on the mutant and ranged from 1.4 to 2.2. We produced evidence that supports a co-chaperone role for curcumin when administered with AGAL pharmacological chaperones (1-deoxygalactonojirimycin and galactose). The combined treatment with curcumin and either pharmacological chaperone was beneficial for four out of five tested mutants and showed fold-increases ranging from 1.1 to 2.3 for DGJ and from 1.1 to 2.8 for galactose. Finally, we tested a long-term treatment on one mutant (L300F) and detected an improvement in Gb3 clearance and lysosomal markers (LAMP-1 and GAA). Altogether, our findings confirmed the necessity of personalized therapies for Fabry patients and paved the way to further studies and trials of treatments for Fabry disease." @default.
- W4313647411 created "2023-01-07" @default.
- W4313647411 creator A5001422423 @default.
- W4313647411 creator A5010599632 @default.
- W4313647411 creator A5031019393 @default.
- W4313647411 creator A5037823066 @default.
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- W4313647411 creator A5048805391 @default.
- W4313647411 creator A5053875999 @default.
- W4313647411 creator A5085627974 @default.
- W4313647411 creator A5086947006 @default.
- W4313647411 date "2023-01-06" @default.
- W4313647411 modified "2023-09-26" @default.
- W4313647411 title "Curcumin Has Beneficial Effects on Lysosomal Alpha-Galactosidase: Potential Implications for the Cure of Fabry Disease" @default.
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