{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T16:11:00Z","timestamp":1790784660943,"version":"4.1.0"},"reference-count":52,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2018,1,1]],"date-time":"2018-01-01T00:00:00Z","timestamp":1514764800000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Human Gene Therapy"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:p>\n                    Mutations in the cilia-centrosomal protein CEP290 are frequently observed in autosomal recessive childhood blindness disorder Leber congenital amaurosis (LCA). No treatment or cure currently exists for this disorder. The\n                    <jats:italic toggle=\"yes\">\n                      Cep290\n                      <jats:sup>rd16<\/jats:sup>\n                    <\/jats:italic>\n                    (retinal degeneration 16) mouse (a model of LCA) carries a mutation in the\n                    <jats:italic toggle=\"yes\">Cep290<\/jats:italic>\n                    gene. This mutation leads to shorter cilia formation and defective photoreceptor structure and function. A roadblock to developing a gene replacement strategy for\n                    <jats:italic toggle=\"yes\">CEP290<\/jats:italic>\n                    using conventional adeno-associated virus (AAV) vectors is its large size. The identification and characterization is reported of a\n                    <jats:italic toggle=\"yes\">miniCEP290<\/jats:italic>\n                    gene that is amenable to AAV2\/8-mediated delivery and delaying retinal degeneration in the\n                    <jats:italic toggle=\"yes\">\n                      Cep290\n                      <jats:sup>rd16<\/jats:sup>\n                    <\/jats:italic>\n                    mice. Using the ability of\n                    <jats:italic toggle=\"yes\">\n                      Cep290\n                      <jats:sup>rd16<\/jats:sup>\n                    <\/jats:italic>\n                    mouse embryonic fibroblasts to from shorter cilia as a platform, a human CEP290 domain encoded by amino acids 580\u20131180 (miniCEP290\n                    <jats:sup>580-1180<\/jats:sup>\n                    ) was identified that can recover the cilia length\n                    <jats:italic toggle=\"yes\">in vitro<\/jats:italic>\n                    . Furthermore, subretinal injection of AAV particles carrying the cDNA expressing miniCEP290\n                    <jats:sup>580-1180<\/jats:sup>\n                    into neonatal\n                    <jats:italic toggle=\"yes\">\n                      Cep290\n                      <jats:sup>rd16<\/jats:sup>\n                    <\/jats:italic>\n                    mice resulted in significantly improved photoreceptor survival, morphology, and function compared to control injected mice. These studies show the potential of using a truncated CEP290 to treat this fast progressing and devastating disease.\n                  <\/jats:p>","DOI":"10.1089\/hum.2017.049","type":"journal-article","created":{"date-parts":[[2017,7,5]],"date-time":"2017-07-05T22:10:49Z","timestamp":1499292649000},"page":"42-50","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":59,"title":["Gene Therapy Using a\n                    <i>miniCEP290<\/i>\n                    Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis"],"prefix":"10.1177","volume":"29","author":[{"given":"Wei","family":"Zhang","sequence":"first","affiliation":[{"name":"Department of Ophthalmology, UMASS Medical School, Worcester, Massachusetts."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linjing","family":"Li","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, UMASS Medical School, Worcester, Massachusetts."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Qin","family":"Su","sequence":"additional","affiliation":[{"name":"Horae Gene Therapy Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guangping","family":"Gao","sequence":"additional","affiliation":[{"name":"Horae Gene Therapy Center"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hemant","family":"Khanna","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, UMASS Medical School, Worcester, Massachusetts."},{"name":"Horae Gene Therapy Center"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2018,1,1]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.23.090506.123249"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.3390\/cells4040674"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.genom.7.080505.115610"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2008.05.003"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1786"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1517\/14728222.2012.680956"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1086\/519494"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2007.052027"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0704140104"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1805"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1086\/507318"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddl107"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/gt.2014.39"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddw075"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.14-14954"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201006105"},{"key":"e_1_3_3_18_2","first-page":"2552","article-title":"In vitro and in vivo rescue of aberrant splicing in CEP290-associated LCA by antisense oligonucleotide delivery","volume":"25","author":"Garanto A","year":"2016","unstructured":"Garanto A, , Chung DC, , Duijkers L, et al. 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