{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,5]],"date-time":"2026-10-05T16:02:44Z","timestamp":1791216164826,"version":"4.1.0"},"reference-count":40,"publisher":"National Academy of Sciences","issue":"15","content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2011,4,12]]},"abstract":"<jats:p>\n                    Patients with Bardet-Biedl syndrome (BBS) experience severe retinal degeneration as a result of impaired photoreceptor transport processes that are not yet fully understood. To date, there is no effective treatment for BBS-associated retinal degeneration, and blindness is imminent by the second decade of life. Here we report the development of an adeno-associated viral (AAV) vector that rescues rhodopsin mislocalization, maintains nearly normal-appearing rod outer segments, and prevents photoreceptor death in the\n                    <jats:italic>Bbs4<\/jats:italic>\n                    -null mouse model. Analysis of the electroretinogram a-wave indicates that rescued rod cells are functionally indistinguishable from wild-type rods. These results demonstrate that gene therapy can prevent retinal degeneration in a mammalian BBS model.\n                  <\/jats:p>","DOI":"10.1073\/pnas.1019222108","type":"journal-article","created":{"date-parts":[[2011,3,28]],"date-time":"2011-03-28T22:34:26Z","timestamp":1301351666000},"page":"6276-6281","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":76,"title":["Gene therapy prevents photoreceptor death and preserves retinal function in a Bardet-Biedl syndrome mouse model"],"prefix":"10.1073","volume":"108","author":[{"given":"David L.","family":"Simons","sequence":"first","affiliation":[{"name":"Departments of Ophthalmology and Neuroscience, Baylor College of Medicine, Houston, TX 77030; and"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanford L.","family":"Boye","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Florida, Gainesville, FL, 32610"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"William W.","family":"Hauswirth","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology, University of Florida, Gainesville, FL, 32610"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Samuel M.","family":"Wu","sequence":"additional","affiliation":[{"name":"Departments of Ophthalmology and Neuroscience, Baylor College of Medicine, Houston, TX 77030; and"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2011,3,28]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"crossref","first-page":"437","DOI":"10.1136\/jmg.36.6.437","article-title":"New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey","volume":"36","author":"Beales PL","year":"1999","unstructured":"PL Beales, N Elcioglu, AS Woolf, D Parker, FA Flinter, New criteria for improved diagnosis of Bardet-Biedl syndrome: Results of a population survey. 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