Cellular pathology of Niemann-Pick type C disease

被引：76

作者：

Ikonen, E

Hölttä-Vuori, M

机构：

[1] Univ Helsinki, Inst Biotechnol, Helsinki, Finland

[2] Biomedicum Helsinki, Natl Publ Hlth Inst, Helsinki, Finland

来源：

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

基金：

芬兰科学院;

关键词：

intracellular cholesterol transport; NPC1; NPC2; membrane trafficking; sphingolipidosis;

D O I：

10.1016/j.semcdb.2004.03.001

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Niemann-Pick type C (NPC) is a lysosomal storage disorder that results in the accumulation of cholesterol and sphingolipids. Mutations in the NPC1 or NPC2 gene are responsible for the disease but the precise functions of the encoded proteins remain unresolved. Recent observations have challenged the traditional concept of NPC as a primary cholesterol transport defect. This review updates the recent NPC literature, summarizing the increasing insight into the cholesterol trafficking circuits and also addressing the contribution of other lipids in the cellular pathogenesis. The importance of NPC as a model for subcellular lipid imbalance in studying more common diseases, such as Alzheimer's and cardiovascular diseases, is discussed. (C) 2004 Elsevier Ltd. All rights reserved.

引用

收藏

页码：445 / 454

页数：10

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