Article
The pharmacological chaperone N-n-butyl-deoxygalactonojirimycin enhances β-galactosidase processing and activity in fibroblasts of a patient with infantile GM1-gangliosidosis.
Human genetics - 1 May 2020
Mohamed Fedah E, Al Sorkhy Mohammad, Ghattas Mohammad A, Al-Gazali Lihadh, Al-Dirbashi Osama, Al-Jasmi Fatma, Ali Bassam R
Abstract excerpt
GM1-gangliosidosis, a lysosomal storage disorder, is associated with ~ 161 missense variants in the GLB1 gene. Affected patients present with β-galactosidase (β-Gal) deficiency in lysosomes. Loss of function in ER-retained misfolded enzymes with missense variants is often due to subcellular mislocalization. Deoxygalactonojirimycin (DGJ) and its derivatives are pharmaceutical chaperones that directly bind to...
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