Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease

Aerts, J.M.F.G.; Kuo, C.L.; Lelieveld, L.T.; Boer, D.E.C.; Lienden, M.J.C. van der; Overkleeft, H.S.; Artola, M.

doi:doi:10.1016/j.cbpa.2019.10.006

Persistent URL of this record https://hdl.handle.net/1887/81814

View statistics

In Collections

This item can be found in the following collections:

Leiden Institute of Chemistry (LIC)

Aerts, J.M.F.G.; Kuo, C.L.; Lelieveld, L.T.; Boer, D.E.C.; Lienden, M.J.C. van der; Overkleeft, H.S.; Artola, M. (2019)

Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease

Article / Letter to editor

Glycosphingolipids are important building blocks of the outer leaflet of the cell membrane. They are continuously recycled, involving fragmentation inside lysosomes by glycosidases. Inherited defects in degradation cause lysosomal glycosphingolipid storage disorders. The relatively common glycosphingolipidosis Gaucher disease is highlighted here to discuss new insights in the molecular basis and pathophysiology of glycosphingolipidoses reached by fundamental research increasingly using chemical biology tools. We discuss improvements in the detection of glycosphingolipid metabolites by mass spectrometry and review new developments in laboratory diagnosis and disease monitoring as well as therapeutic interventions.