Metazoan and microbial models of Niemann-Pick type C disease

被引：19
作者：
Higaki, K
Almanzar-Paramio, D
Sturley, SL
机构：
[1] Columbia Univ Coll Phys & Surg, Inst Human Nutr, New York, NY 10032 USA
[2] Columbia Univ Coll Phys & Surg, Dept Pharmacol, New York, NY 10032 USA
[3] Columbia Univ Coll Phys & Surg, Dept Pediat, New York, NY 10032 USA
来源：
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS | 2004年 / 1685卷 / 1-3期
关键词：
cholesterol; sphingolipid; Niemann-Pick type C; yeast; NPC1; NPC2; NCR1;
D O I：
10.1016/j.bbalip.2004.08.010
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 (NP-C) disease compellingly provides insight into lipid transport and the association of this process with severe neuronal dysfunction. The two genes that define this syndrome, NPC1 and NPC2, are conserved throughout much of eukaryotic evolution, to the extent that the yeast and mammalian NPC1 genes are functionally interchangeable. We present here an evolutionary perspective of the genes defective in NP-C disease. We will describe how conservation of sequences and their biological roles in a variety of microbial and metazoan model systems may act as roadmaps to understanding this syndrome in humans. (C) 2004 Published by Elsevier B.V
引用
收藏
页码：38 / 47
页数：10
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