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. Author manuscript; available in PMC: 2022 Aug 1.
Published in final edited form as: Expert Opin Pharmacother. 2021 Mar 25;22(11):1489–1503. doi: 10.1080/14656566.2021.1902989

Figure 1. Therapeutic strategies to enhance glucocerebrosidase activity.

Figure 1.

Mutations in GBA1 lead to misfolded glucocerebrosidase within the endoplasmic reticulum (ER), leading to protein mis-trafficking or degradation. Enzyme Replacement Therapy is currently used to introduce fully-functioning enzyme into the cell. Substrate reduction therapy targets the synthesis of glucosylceramide to prevent substrate accumulation. Gene therapy targets the host genome to endogenously restore glucocerebrosidase activity. Small-molecule chaperones bind to mutant glucocerebrosidase, stabilizing and facilitating the transport of the mutant enzyme to lysosomes. GCase, glucocerebrosidase. GluCer, glucosylceramide.