Lipids on Trial: The Search for the Offending Metabolite in Niemann-Pick type C Disease

被引：140

作者：

Lloyd-Evans, Emyr ^{[1
]}

Platt, Frances M. ^{[1
]}

机构：

[1] Univ Oxford, Dept Pharmacol, Oxford OX1 3QT, England

来源：

TRAFFIC | 2010年 / 11卷 / 04期

关键词：

NPC1; NPC2; sphingosine; sphingolipid; cholesterol; lysosomal calcium; lysosomal storage disease; PROTEIN-KINASE-C; LOW-DENSITY-LIPOPROTEIN; SPHINGOLIPID ACTIVATOR PROTEINS; STEROL-SENSING DOMAIN; ACID SPHINGOMYELINASE; CHOLESTEROL ACCUMULATION; NPC1; PROTEIN; DISTAL AXONS; MURINE MODEL; CELL-BODIES;

D O I：

10.1111/j.1600-0854.2010.01032.x

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Niemann-Pick disease type C is a complex lysosomal storage disorder caused by mutations in either the NPC1 or NPC2 genes that is characterized at the cellular level by the storage of multiple lipids, defective lysosomal calcium homeostasis and unique trafficking defects. We review the potential role of each of the individual storage lipids in initiating the pathogenic cascade and propose a model of NPC1 and NPC2 function based on the current knowledge.

引用

页码：419 / 428

页数：10

共 101 条

[1]

ABIMOSLEH L, 2009, P NATL ACAD SCI US

[2]

[Anonymous], 2001, METABOLIC MOL BASIS

[3] Transport of lipids by ABC proteins: Interactions and implications for cellular toxicity, viability and function [J].

Aye, Irving L. M. H. ;

Singh, Ambika T. ;

Keelan, Jeffrey A. .

CHEMICO-BIOLOGICAL INTERACTIONS, 2009, 180 (03) :327-339

[4] Development of an assay for the intermembrane transfer of cholesterol by Niemann-Pick C2 protein [J].

Babalola, Jonathan O. ;

Wendeler, Michaela ;

Breiden, Bernadette ;

Arenz, Christoph ;

Schwarzmann, Guenter ;

Locatelli-Hoops, Silvia ;

Sandhoff, Konrad .

BIOLOGICAL CHEMISTRY, 2007, 388 (06) :617-626

[5]

BETTO R, 1992, ADV EXP MED BIOL, V311, P403

[6] INHIBITION OF PROTEIN KINASE-C BY SPHINGOSINE CORRELATES WITH THE PRESENCE OF POSITIVE CHARGE [J].

BOTTEGA, R ;

EPAND, RM ;

BALL, EH .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1989, 164 (01) :102-107

[7] METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE [J].

BRADY, RO ;

KANFER, JN ;

MOCK, MB ;

FREDRICKSON, DS .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) :366-+

[8] The Hedgehog protein family [J].

Burglin, Thomas R. .

GENOME BIOLOGY, 2008, 9 (11) :241

[9] NIEMANN-PICK C-DISEASE - CYSTINE AND LIPIDS ACCUMULATE IN THE MURINE MODEL OF THIS LYSOSOMAL CHOLESTEROL LIPIDOSIS [J].

BUTLER, JD ;

VANIER, MT ;

PENTCHEV, PG .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 196 (01) :154-159

[10] NAADP mobilizes calcium from acidic organelles through two-pore channels [J].

Calcraft, Peter J. ;

Ruas, Margarida ;

Pan, Zui ;

Cheng, Xiaotong ;

Arredouani, Abdelilah ;

Hao, Xuemei ;

Tang, Jisen ;

Rietdorf, Katja ;

Teboul, Lydia ;

Chuang, Kai-Ting ;

Lin, Peihui ;

Xiao, Rui ;

Wang, Chunbo ;

Zhu, Yingmin ;

Lin, Yakang ;

Wyatt, Christopher N. ;

Parrington, John ;

Ma, Jianjie ;

Evans, A. Mark ;

Galione, Antony ;

Zhu, Michael X. .

NATURE, 2009, 459 (7246) :596-U130

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