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Glucosylceramide metabolism in Gaucher diseases and effects of chaperone versus substrate reduction therapies

Ceramide, glucosylceramide shift between the Golgi apparatus and lysosomes. Ceramides (Cer), generated in the endoplasmic reticulum (ER), are transported to the Golgi apparatus, where UDP-glucosylceramide synthase (UGCG synthase) converts Cer to glucosylceramide (GC) on the cytosolic side of the Golgi (Halter et al 2007; Hanada 2010). After, GC is transported back into the ER. To transport ceramide to lysosome, GS, GCase, and saposin C (reaction facilitator) are embedded within intralysosomal membrane where cleavage of the lipid tail will occur (Tamargo et al 2012). Eliglustat inhibits UGCG synthase. Ambroxol increases GCase enzyme activity.

Halter D, Neumann S, van Dijk SM, et al. Pre- and post-Golgi translocation of glucosylceramide in glycosphingolipid synthesis. J Cell Biol 2007;179(1):101-15.
Hanada K. Intracellular trafficking of ceramide by ceramide transfer protein. Proc Jpn Acad Ser B Phys Biol Sci 2010;86(4):426-37.
Tamargo RJ, Velayati A, Goldin E, Sidransky E. The role of saposin C in Gaucher disease. Mol Genet Metab 2012;106(3):257-63.

(Source: Ivanova MM, Dao J, Kasaci N, et al. Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease. PLoS One 2021;16[10]:e0247211. Creative Commons Attribution [CC BY] License,