Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.

Glycosphingolipids and lysosomal storage disorders as illustrated by gaucher disease.
Curr Opin Chem Biol. 2019 Nov 25;53:204-215
Authors: Aerts JMFG, Kuo CL, Lelieveld LT, Boer DEC, van der Lienden MJC, Overkleeft HS, Artola M
Abstract
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.
PMID: 31783225 [PubMed - as supplied by publisher]

Source: Current Opinion in Chemical Biology - November 24, 2019 Category: Biochemistry Authors: Aerts JMFG, Kuo CL, Lelieveld LT, Boer DEC, van der Lienden MJC, Overkleeft HS, Artola M Tags: Curr Opin Chem Biol Source Type: research