Glucocerebrosidase Enhancers for Selected Gaucher Disease Genotypes by Modification of α-1- C -Substituted Imino- D -xylitols (DIXs) by Click Chemistry (original) (raw)

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Lysosomal storage disorders, particularly Gaucher disease (GD), arise from the deficiency of glucocerebrosidase (GCase), leading to glucosylceramide accumulation. This study presents the design and synthesis of α-1-C-substituted imino-D-xylitol derivatives as potential pharmacological chaperones to enhance GCase activity for specific genotypes of GD. Key compounds, particularly DIX-28, demonstrated significant enhancement of GCase activity in fibroblasts from patients with the G202R mutation, suggesting new avenues for therapeutic strategies in GD.