[Chaperone molecules: The example of Fabry disease].

Abstract excerpt

Fabry disease is due to mutations in the GLA gene that cause a deficiency of the activity of the lysosomal enzyme alpha-galactosidase A (α-gal A) resulting in intra-tissue accumulation of globotriaosylceramide. Recently, a novel therapeutic approach based on the pharmacological chaperone migalastat has been developed. It binds, in a specific and reversible manner, to the catalytic site of α-gal A mutants, to...

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