Intraflagellar transport: A critical player in photoreceptor development and the pathogenesis of retinal degenerative diseases

被引：3

作者：

Gupta, Mohona ^{[1
,2
]}

Pazour, Gregory J. ^{[1
,3
]}

机构：

[1] Univ Massachusetts, Chan Med Sch, Program Mol Med, Worcester, MA USA

[2] Univ Massachusetts, Morningside Grad Sch Biol Sci, Chan Med Sch, Worcester, MA USA

[3] Univ Massachusetts, Program Mol Med, Chan Med Sch, Suite 213 Biotech 2,373 Plantat St, Worcester, MA 01605 USA

来源：

CYTOSKELETON | 2024年 / 81卷 / 11期

基金：

美国国家卫生研究院;

关键词：

cilia; ciliopathy; flagella; intraflagellar transport; outer segment; photoreceptor; retinal degeneration; BARDET-BIEDL-SYNDROME; ASPHYXIATING THORACIC DYSTROPHY; RECESSIVE RETINITIS-PIGMENTOSA; LEBER CONGENITAL AMAUROSIS; LIGHT-DRIVEN TRANSLOCATION; PROTEIN-COUPLED RECEPTORS; OUTER SEGMENT; SENIOR-LOKEN; HYPOMORPHIC MUTATIONS; SKELETAL CILIOPATHIES;

D O I：

10.1002/cm.21823

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

In vertebrate vision, photons are detected by highly specialized sensory cilia called outer segments. Photoreceptor outer segments form by remodeling the membrane of a primary cilium into a stack of flattened disks. Intraflagellar transport (IFT) is critical to the formation of most types of eukaryotic cilia including the outer segments. This review covers the state of knowledge of the role of IFT in the formation and maintenance of outer segments and the human diseases that result from mutations in genes encoding the IFT complex and associated motors.

引用

页码：556 / 568

页数：13

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