C1q enhances cone photoreceptor survival in a mouse model of autosomal recessive retinitis pigmentosa

被引：12

作者：

Humphries, Marian M. ^{[1
]}

Kenna, Paul F. ^{[1
,2
]}

Campbell, Matthew ^{[1
]}

Tam, Lawrence C. S. ^{[1
]}

Nguyen, Anh T. H. ^{[1
]}

Farrar, G. Jane ^{[1
]}

Botto, Marina ^{[3
]}

Kiang, Anna Sophia ^{[1
]}

Humphries, Peter ^{[1
]}

机构：

[1] Trinity Coll Dublin, Smurfit Inst Genet, Ocular Genet Unit, Dublin 2, Ireland

[2] Eye & Ear Hosp, Res Fdn, Dublin, Ireland

[3] Univ London Imperial Coll Sci Technol & Med, Ctr Complement & Inflammat Res, Dept Med, London, England

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2012年 / 20卷 / 01期

基金：

爱尔兰科学基金会;

关键词：

C1qa; C3; retinopathy; retinitis pigmentosa; complement; cone photoreceptors; LEBER CONGENITAL AMAUROSIS; GENE REPLACEMENT THERAPY; RCS RAT MODEL; RETINAL DEGENERATION; MURINE MODEL; COMPLEMENT; MICE; POLYMORPHISM; DISRUPTION; MUTATION;

D O I：

10.1038/ejhg.2011.151

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：

Retinitis pigmentosa (RP) is a degenerative retinal disease involving progressive loss of rod and cone photoreceptor function. It represents the most common form of registered blindness among the working aged populations of developed countries. Given the immense genetic heterogeneity associated with this disease, parameters influencing cone photoreceptor survival (preservation of daytime vision) that are independent of primary mutations are exceedingly important to identify from a therapeutic standpoint. Here we identify C1q, the primary component of the classical complement pathway, as a cone photoreceptor neuronal survival factor. European Journal of Human Genetics (2012) 20, 64-68; doi:10.1038/ejhg.2011.151; published online 24 August 2011

引用

页码：64 / 68

页数：5

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