The pathogenesis of glycosphingolipid storage disorders

被引：65

作者：

Ginzburg, L ^{[1
]}

Kacher, Y ^{[1
]}

Futerman, AH ^{[1
]}

机构：

[1] Weizmann Inst Sci, Dept Biol Chem, IL-76100 Rehovot, Israel

来源：

SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY | 2004年 / 15卷 / 04期

基金：

以色列科学基金会;

关键词：

Gaucher; Tay-Sachs; Niemann-Pick A and B; calcium; phospholipid;

D O I：

10.1016/j.semcdb.2004.03.003

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Glycosphingolipid storage disorders are inborn errors of metabolism caused by the defective activity of degradative enzymes in lysosomes. In this review, we summarize studies performed over the past few years attempting to define the secondary and down-stream biochemical and cellular pathways affected in GSL storage disorders that are responsible for neuronal dysfunction, a characteristic of most of these disorders. We focus mainly on the regulation of intracellular calcium homeostasis and phospholipid biosynthesis. These studies may help unravel new roles for glycosphingolipids in the regulation of normal cell physiology, as well as suggest potential new therapeutic options in the glycosphingolipid and other lysosomal storage disorders. (C) 2004 Elsevier Ltd. All rights reserved.

引用

页码：417 / 431

页数：15

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