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

共 32 条

[1]

Beutler E., 1995, METABOLIC MOL BASES, P2641

[2] ISOLATION AND CHARACTERIZATION OF CHINESE HAMSTER OVARY CELL MUTANTS DEFECTIVE IN INTRACELLULAR LOW-DENSITY LIPOPROTEIN CHOLESTEROL TRAFFICKING [J].

CADIGAN, KM ;

SPILLANE, DM ;

CHANG, TY .

JOURNAL OF CELL BIOLOGY, 1990, 110 (02) :295-308

[3] LINKAGE OF NIEMANN-PICK DISEASE TYPE-C TO HUMAN CHROMOSOME-18 [J].

CARSTEA, ED ;

POLYMEROPOULOS, MH ;

PARKER, CC ;

DETERAWADLEIGH, SD ;

ONEILL, RR ;

PATTERSON, MC ;

GOLDIN, E ;

XIAO, H ;

STRAUB, RE ;

VANIER, MT ;

BRADY, RO ;

PENTCHEV, PG .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1993, 90 (05) :2002-2004

[4] Niemann-Pick C1 disease gene: Homology to mediators of cholesterol homeostasis [J].

Carstea, ED ;

Morris, JA ;

Coleman, KG ;

Loftus, SK ;

Zhang, D ;

Cummings, C ;

Gu, J ;

Rosenfeld, MA ;

Pavan, WJ ;

Krizman, DB ;

Nagle, J ;

Polymeropoulos, MH ;

Sturley, SL ;

Ioannou, YA ;

Higgins, ME ;

Comly, M ;

Cooney, A ;

Brown, A ;

Kaneski, CR ;

BlanchetteMackie, EJ ;

Dwyer, NK ;

Neufeld, EB ;

Chang, TY ;

Liscum, L ;

Strauss, JF ;

Ohno, K ;

Zeigler, M ;

Carmi, R ;

Sokol, J ;

Markie, D ;

ONeill, RR ;

vanDiggelen, OP ;

Elleder, M ;

Patterson, MC ;

Brady, RO ;

Vanier, MT ;

Pentchev, PG ;

Tagle, DA .

SCIENCE, 1997, 277 (5323) :228-231

[5]

Fielding CJ, 1997, J LIPID RES, V38, P1503

[6] Elevated GM2 ganglioside is associated with dendritic proliferation in normal developing neocortex [J].

Goodman, LA ;

Walkley, SU .

DEVELOPMENTAL BRAIN RESEARCH, 1996, 93 (1-2) :162-171

[7] Linkage of Niemann-Pick disease type D to the same region of human chromosome 18 as Niemann-Pick disease type C [J].

Greer, WL ;

Riddell, DC ;

Byers, DM ;

Welch, JP ;

Girouard, GS ;

Sparrow, SM ;

Gillan, TL ;

Neumann, PE .

AMERICAN JOURNAL OF HUMAN GENETICS, 1997, 61 (01) :139-142

[8] Substantial narrowing of the Niemann-Pick C candidate interval by yeast artificial chromosome complementation [J].

Gu, JZ ;

Carstea, ED ;

Cummings, C ;

Morris, JA ;

Loftus, SK ;

Zhang, D ;

Coleman, KG ;

Cooney, AM ;

Comly, ME ;

Fandino, L ;

Roff, C ;

Tagle, DA ;

Pavan, WJ ;

Pentchev, PG ;

Rosenfeld, MA .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1997, 94 (14) :7378-7383

[9]

KURIMASA A, 1993, HUM GENET, V92, P157

[10]

LISCUM L, 1987, J BIOL CHEM, V262, P17002

← 1 2 3 4 →