{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,6]],"date-time":"2026-10-06T22:33:19Z","timestamp":1791325999107,"version":"4.3.1"},"reference-count":55,"publisher":"National Academy of Sciences","issue":"32","license":[{"start":{"date-parts":[[2016,1,27]],"date-time":"2016-01-27T00:00:00Z","timestamp":1453852800000},"content-version":"vor","delay-in-days":184,"URL":"http:\/\/www.pnas.org\/site\/misc\/userlicense.xhtml"}],"funder":[{"DOI":"10.13039\/100000053","name":"HHS | NIH | National Eye Institute","doi-asserted-by":"publisher","award":["R01-EY022616"],"award-info":[{"award-number":["R01-EY022616"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000053","name":"HHS | NIH | National Eye Institute","doi-asserted-by":"publisher","award":["R01-EY011298"],"award-info":[{"award-number":["R01-EY011298"]}],"id":[{"id":"10.13039\/100000053","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["www.pnas.org"],"crossmark-restriction":true},"short-container-title":["Proc. Natl. Acad. Sci. U.S.A."],"published-print":{"date-parts":[[2015,8,11]]},"abstract":"<jats:title>Significance<\/jats:title>\n                  <jats:p>The photoreceptor outer segment (OS) is a cellular compartment that senses light in the eye. Structural and functional defects in the OS are common causes of inherited blindness. Bardet\u2013Biedl syndrome (BBS) is a human genetic disease associated with defective protein trafficking and blindness. However, it is not well understood why or how photoreceptors die in BBS. In this article, we show that the primary cause of photoreceptor degeneration in BBS is likely aberrant accumulation of non-OS proteins in the OS, which is accompanied by OS disorganization and deficiencies of certain proteins in the cell body, resulting from their sequestration in the OS. Our study provides important clues to the pathogenic mechanisms of BBS and the molecular functions of BBS proteins in vivo.<\/jats:p>","DOI":"10.1073\/pnas.1510111112","type":"journal-article","created":{"date-parts":[[2015,7,27]],"date-time":"2015-07-27T21:51:13Z","timestamp":1438033873000},"update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":153,"title":["Accumulation of non-outer segment proteins in the outer segment underlies photoreceptor degeneration in Bardet\u2013Biedl syndrome"],"prefix":"10.1073","volume":"112","author":[{"given":"Poppy","family":"Datta","sequence":"first","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chantal","family":"Allamargot","sequence":"additional","affiliation":[{"name":"Central Microscopy Research Facility, University of Iowa, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Hudson","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emily K.","family":"Andersen","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sajag","family":"Bhattarai","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arlene V.","family":"Drack","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Val C.","family":"Sheffield","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Iowa College of Medicine, Iowa City, IA 52242;"},{"name":"Howard Hughes Medical Institute, University of Iowa College of Medicine, Iowa City, IA 52242"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Seongjin","family":"Seo","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Sciences, University of Iowa College of Medicine, Iowa City, IA 52242;"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"341","published-online":{"date-parts":[[2015,7,27]]},"reference":[{"key":"e_1_3_3_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2013.03.002"},{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.33.1.61"},{"key":"e_1_3_3_3_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.982063"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0042-6989(01)00228-0"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2013.08.004"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cellbio.042308.113337"},{"key":"e_1_3_3_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(02)00636-0"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tcb.2006.09.001"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.R111.305243"},{"key":"e_1_3_3_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0070-2153(08)00802-8"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrm952"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.09-3828"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.03.053"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2008.11.001"},{"key":"e_1_3_3_15_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200909183"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.1101\/gad.1194004"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1002358"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/nature03818"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.201207139"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2010.05.015"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2011.03.001"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0405496101"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/emboj.2012.253"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2012-100737"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12198"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.devcel.2014.09.011"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0708571104"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0402354101"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddi123"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1113220108"},{"key":"e_1_3_3_31_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2008.211"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-cellbio-101011-155818"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2007.06.030"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1242\/jcs.039982"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.1.27"},{"key":"e_1_3_3_36_2","first-page":"2908","article-title":"Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice","volume":"118","author":"Yang Z","year":"2008","unstructured":"Z Yang, , Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. J Clin Invest 118, 2908\u20132916 (2008).","journal-title":"J Clin Invest"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1523\/JNEUROSCI.2034-08.2009"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2012.10.038"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.celrep.2013.11.011"},{"key":"e_1_3_3_40_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00018-010-0603-4"},{"key":"e_1_3_3_41_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200806009"},{"key":"e_1_3_3_42_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0712327105"},{"key":"e_1_3_3_43_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.12-9662"},{"key":"e_1_3_3_44_2","doi-asserted-by":"publisher","DOI":"10.1167\/iovs.13-11673"},{"key":"e_1_3_3_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-4835(91)90113-S"},{"key":"e_1_3_3_46_2","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth.1322"},{"key":"e_1_3_3_47_2","doi-asserted-by":"publisher","DOI":"10.1038\/nprot.2007.261"},{"key":"e_1_3_3_48_2","doi-asserted-by":"publisher","DOI":"10.1038\/nbt.2377"},{"key":"e_1_3_3_49_2","doi-asserted-by":"publisher","DOI":"10.1021\/pr0701198"},{"key":"e_1_3_3_50_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/bth092"},{"key":"e_1_3_3_51_2","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btl379"},{"key":"e_1_3_3_52_2","doi-asserted-by":"publisher","DOI":"10.1021\/pr0499491"},{"key":"e_1_3_3_53_2","doi-asserted-by":"publisher","DOI":"10.1002\/pmic.200900370"},{"key":"e_1_3_3_54_2","doi-asserted-by":"publisher","DOI":"10.1021\/ac051437y"},{"key":"e_1_3_3_55_2","doi-asserted-by":"publisher","DOI":"10.3109\/02713688409167215"}],"container-title":["Proceedings of the National Academy of Sciences"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.pnas.org\/syndication\/doi\/10.1073\/pnas.1510111112","content-type":"unspecified","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/pnas.org\/doi\/pdf\/10.1073\/pnas.1510111112","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,13]],"date-time":"2022-04-13T00:05:36Z","timestamp":1649808336000},"score":1,"resource":{"primary":{"URL":"https:\/\/pnas.org\/doi\/full\/10.1073\/pnas.1510111112"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,7,27]]},"references-count":55,"journal-issue":{"issue":"32","published-print":{"date-parts":[[2015,8,11]]}},"alternative-id":["10.1073\/pnas.1510111112"],"URL":"https:\/\/doi.org\/10.1073\/pnas.1510111112","relation":{},"ISSN":["0027-8424","1091-6490"],"issn-type":[{"value":"0027-8424","type":"print"},{"value":"1091-6490","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,7,27]]},"assertion":[{"value":"2015-07-27","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}