The glycosphingolipidoses - from disease to basic principles of metabolism

被引：25

作者：

Schuette, CG ^{[1
]}

Doering, T ^{[1
]}

Kolter, T ^{[1
]}

Sandhoff, K ^{[1
]}

机构：

[1] Univ Bonn, Kekule Inst Organ Chem & Biochem, D-53121 Bonn, Germany

来源：

BIOLOGICAL CHEMISTRY | 1999年 / 380卷 / 7-8期

关键词：

glycosphingolipid degradation; glycosidase; lysosomal storage disease; skin; sphingolipid activator protein; therapy;

D O I：

10.1515/BC.1999.096

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：759 / 766

页数：8

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