disease 1,749 words KG: ent-dise-96104ea1
Contents

GBA N370S

Disease Info
Molecular chaperonesSmall molecules that can stabilize mutant glucocerebrosidase and enhance residual enzyme activity
Gene therapyViral vector delivery of functional GBA gene to increase glucocerebrosidase expression
Substrate reductionPharmacological approaches to reduce glucosylceramide accumulation
Autophagy enhancersCompounds that can improve lysosomal function and clearance of alpha-synuclein
DatabasesOMIMOrphanetClinicalTrialsPubMed

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