Article
The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness.
Human molecular genetics - 15 Apr 2011
Baye Lisa M, Patrinostro Xiaobai, Swaminathan Svetha, Beck John S, Zhang Yan, Stone Edwin M, Sheffield Val C, Slusarski Diane C
Abstract excerpt
The gene coding for centrosomal protein 290 (CEP290), a large multidomain protein, is the most frequently mutated gene underlying the non-syndromic blinding disorder Leber's congenital amaurosis (LCA). CEP290 has also been implicated in several cilia-related syndromic disorders including Meckel-Gruber syndrome, Joubert syndrome, Senor-Loken syndrome and Bardet-Biedl syndrome (BBS). In this study, we characterize...
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