The pathophysiology and mechanisms of NP-C disease

被引：111

作者：

Sturley, SL

Patterson, MC

Balch, W

Liscum, L

机构：

[1] Columbia Univ, Inst Human Nutr, New York, NY 10032 USA

[2] Columbia Univ, Dept Pediat, New York, NY 10032 USA

[3] Columbia Univ, Dept Neurol, New York, NY 10032 USA

[4] Scripps Res Inst, Dept Cell Biol, La Jolla, CA 92037 USA

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

来源：

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

关键词：

neurodegeneration; cholesterol; sphingolipid; Niemann-Pick type C; NPC; 1; NPC2;

D O I：

10.1016/j.bbalip.2004.08.014

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：

The molecular isolation of NPC1 and NPC2, the genes defective in patients with Niemann-Pick disease type C (NP-C), has heralded in an exponential increase in our understanding of this syndrome and thus of human intracellular sterol transport. Despite this, neither the mechanisms of action nor the substrates for these putative transporters have been defined. In this overview, we describe our perspectives on the current awareness of the genetic determination and cellular biology of this syndrome, with emphasis on the underlying events that lead to neurodegeneration and the manner in which they might eventually be treated. (C) 2004 Published by Elsevier B.V.

引用

页码：83 / 87

页数：5

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