Marco van Eijk
University of Leiden, Netherlands
Glycosphingoid bases: generation and function
Glycosphingoid bases are generated in excess in glycosphingolipid storage disorders.
In the course of these pathologies glycosylated sphingolipid species accumulate within
lysosomes due to flaws in the respective lipid degrading machinery. Deacylation of accumulating glycosphingolipids drives the formation of lyso-glycosphingolipids. In lysosomal
storage diseases such as Gaucher Disease massive intra-lysosomal glycosphingolipid accumulation occurs. The lysosomal enzyme acid ceramidase generates the deacylated lyso-glycosphingolipid species.