The primary cilium as a cellular signaling center: lessons from disease

被引：116

作者：

Lancaster, Madeline A. ^{[1
]}

Gleeson, Joseph G. ^{[1
,2
]}

机构：

[1] Univ Calif San Diego, Dept Neurosci, Program Biomed Sci, La Jolla, CA 92093 USA

[2] Howard Hughes Med Inst, Chevy Chase, MD USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2009年 / 19卷 / 03期

关键词：

BARDET-BIEDL-SYNDROME; LEBER CONGENITAL AMAUROSIS; POLYCYSTIC KIDNEY-DISEASE; TUBBY-LIKE PROTEIN-1; RETINITIS-PIGMENTOSA; BETA-CATENIN; PROGENITOR POOL; CYST FORMATION; CILIARY; TRANSPORT;

D O I：

10.1016/j.gde.2009.04.008

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

Genetic diseases known as ciliopathies have recently entered the limelight, placing new importance on a previously mysterious organelle: the primary cilium. Mutations affecting the primary cilium in both humans and animal models can lead to a plethora of distinct phenotypes including retinal degeneration, kidney cysts, and brain malformations. New findings are quickly lending insight into the functions of this cellular extension that seems to be especially important in modulation of subcellular signaling cascades at various stages of development and adult homeostasis.

引用

页码：220 / 229

页数：10

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