Niemann-Pick disease type C

被引：96

作者：

Liscum, L ^{[1
]}

Klansek, JJ ^{[1
]}

机构：

[1] Tufts Univ, Sch Med, Dept Physiol, Boston, MA 02111 USA

来源：

CURRENT OPINION IN LIPIDOLOGY | 1998年 / 9卷 / 02期

关键词：

D O I：

10.1097/00041433-199804000-00009

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：

Niemann-Pick type C (NPC) is an autosomal recessive lysosomal storage disease. Fibroblasts from individuals with Niemann-Pick type C exhibit defective intracellular cholesterol transport. Linkage analysis has led to the recent cloning of the NPC1 gene on human chromosome 18, which is the major disease locus. Analysis of NPC1 reveals homologies with key regulators of cholesterol homeostasis and a Drosophila morphogen receptor. (C) 1998 Rapid Science Ltd.

引用

页码：131 / 135

页数：5