The glycosphingolipidoses - from disease to basic principles of metabolism

The glycosphingolipidoses are a set of diseases that are caused by defects in the lysosomal degradation of glycolipids derived from the plasma membran e. By investigating the molecular bases of the diseases, basic principles o f storage disease pathology and of membrane digestion were discovered. The generation of mouse models has facilitated the development of new and promi sing therapeutic strategies for these diseases, most of which are not treat able at present. Lately, the discovery of the importance of glycosphingolip id metabolism for skin development has opened a new and interesting field.