CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype-Reference-Cited by-同舟云学术

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CEP290 gene transfer rescues Leber congenital amaurosis cellular phenotype

Published:2014-05-08 Issue:7 Volume:21 Page:662-672
ISSN:0969-7128
Container-title:Gene Therapy
language:en
Short-container-title:Gene Ther

Author:

Burnight E R,Wiley L A,Drack A V,Braun T A,Anfinson K R,Kaalberg E E,Halder J A,Affatigato L M,Mullins R F,Stone E M,Tucker B A

Publisher

Springer Science and Business Media LLC

Subject

Genetics,Molecular Biology,Molecular Medicine

Link

http://www.nature.com/articles/gt201439.pdf

Reference48 articles.

1. Coppieters F, Lefever S, Leroy BP, De Baere E . CEP290, a gene with many faces: mutation overview and presentation of CEP290base. Hum Mutat 2010; 31: 1097–1108.

2. Stone EM . Leber congenital amaurosis - a model for efficient genetic testing of heterogeneous disorders: LXIV Edward Jackson Memorial Lecture. Am J Ophthalmol 2007; 144: 791–811.

3. Perrault I, Delphin N, Hanein S, Gerber S, Dufier J-L, Roche O et al. Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat 2007; 28: 416.

4. Chang B, Khanna H, Hawes N, Jimeno D, He S, Lillo C et al. In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse. Hum Mol Genet 2006; 15: 1847–1857.

5. Sayer JA, Otto EA, O'Toole JF, Nurnberg G, Kennedy MA, Becker C et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4. Nat Genet 2006; 38: 674–681.

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