Glycosphingolipid lysosomal storage diseases: therapy and pathogenesis

被引：76

作者：

Jeyakumar, M ^{[1
]}

Butters, TD ^{[1
]}

Dwek, RA ^{[1
]}

Platt, FM ^{[1
]}

机构：

[1] Univ Oxford, Glycobiol Inst, Dept Biochem, Oxford OX1 3QU, England

来源：

NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY | 2002年 / 28卷 / 05期

关键词：

lysosomal storage disease; pathogenesis; glycosphingolipid biosynthesis inhibitors; substrate reduction therapy; gangliosides;

D O I：

10.1046/j.1365-2990.2002.00422.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Paediatric neurodegenerative diseases are frequently caused by inborn errors in glycosphingolipid (GSL) catabolism and are collectively termed the glycosphingolipidoses. GSL catabolism occurs in the lysosome and a defect in an enzyme involved in GSL degradation leads to the lysosomal storage of its substrate(s). GSLs are abundantly expressed in the central nervous system (CNS) and the disorders frequently have a progressive neurodegenerative course. Our understanding of pathogenesis in these diseases is incomplete and currently few options exist for therapy. In this review we discuss how mouse models of these disorders are providing insights into pathogenesis and also leading to progress in evaluating experimental therapies.

引用

页码：343 / 357

页数：15

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