The Glycosphingolipidoses - from Disease to Basic Principles of Metabolism
1999
* Corresponding author The glycosphingolipidoses are a set of diseases that are caused by defects in the lysosomal degradation of glycolipids derived from the plasma membrane. By investigating the molecular bases of the diseases, basic principles of storage disease pathology and of membrane digestion were discovered. The generation of mouse models has facilitated the development of new and promising therapeutic strategies for these diseases, most of which are not treatable at present. Lately, the discovery of the importance of glycosphingolipid metabolism for skin development has opened a new and interesting field.
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