Niemann-Pick C research from mouse to gene

被引：75

作者：

Pentchev, PG ^{[1
]}

机构：

[1] NIH, Bethesda, MD 20892 USA

来源：

BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS | 2004年 / 1685卷 / 1-3期

关键词：

cholesterol; cholesteol transport; Niemann-Pick C; positional cloning; sphingomyelinase;

D O I：

10.1016/j.bbalip.2004.08.005

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：

Understanding the molecular basis of Niemann-Pick C (NP-C) disease took decades of struggle. Here I describe our early efforts to unravel the complex lipid storage found in NP-C tissues, and how the mouse model for NP-C pointed us in the right direction. Our success in cloning the NP-Cl gene in 1997 can be attributed to collaboration between an international body of scientists and families coping with NP-C disease. The next challenge is to delineate the biological function of the NP-Cl protein. (C) 2004 Elsevier B.V All rights reserved.

引用

页码：3 / 7

页数：5

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