| http://purl.uniprot.org/citations/21257638 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/21257638 | http://www.w3.org/2000/01/rdf-schema#comment | "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 the developmental and functional roles of cep290 in zebrafish. An antisense oligonucleotide [Morpholino (MO)], designed to generate an altered cep290 splice product that models the most common LCA mutation, was used for gene knockdown. We show that cep290 MO-injected embryos have reduced Kupffer's vesicle size and delays in melanosome transport, two phenotypes that are observed upon knockdown of bbs genes in zebrafish. Consistent with a role in cilia function, the cep290 MO-injected embryos exhibited a curved body axis. Patients with LCA caused by mutations in CEP290 have reduced visual perception, although they present with a fully laminated retina. Similarly, the histological examination of retinas from cep290 MO-injected zebrafish revealed no gross lamination defects, yet the embryos had a statistically significant reduction in visual function. Finally, we demonstrate that the vision impairment caused by the disruption of cep290 can be rescued by expressing only the N-terminal region of the human CEP290 protein. These data reveal that a specific region of the CEP290 protein is sufficient to restore visual function and this region may be a viable gene therapy target for LCA patients with mutations in CEP290."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/ddr025"xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Swaminathan S."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Zhang Y."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Sheffield V.C."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Stone E.M."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Baye L.M."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Slusarski D.C."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Beck J.S."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/author | "Patrinostro X."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/date | "2011"xsd:gYear |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/name | "Hum Mol Genet"xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/pages | "1467-1477"xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/title | "The N-terminal region of centrosomal protein 290 (CEP290) restores vision in a zebrafish model of human blindness."xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://purl.uniprot.org/core/volume | "20"xsd:string |
| http://purl.uniprot.org/citations/21257638 | http://www.w3.org/2004/02/skos/core#exactMatch | http://purl.uniprot.org/pubmed/21257638 |
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