{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T13:11:56Z","timestamp":1782306716220,"version":"3.54.5"},"reference-count":21,"publisher":"Wiley","issue":"17","license":[{"start":{"date-parts":[[2006,7,5]],"date-time":"2006-07-05T00:00:00Z","timestamp":1152057600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["FEBS Letters"],"published-print":{"date-parts":[[2006,7,24]]},"abstract":"<jats:p>RPE65, a membrane\u2010associated protein in the retinal pigment epithelium, is the isomerohydrolase essential for regenerating 11\u2010<jats:italic>cis<\/jats:italic> retinal, the chromophore for visual pigments. RPE65 mutations are associated with inherited retinal dystrophies. Here we report that single point mutations of RPE65, Y144D and P363T, identified in patients with Leber's congenital amaurosis (LCA), significantly decreased the stability of RPE65. Moreover, these mutations altered subcellular localization of RPE65 and abolished its isomerohydrolase activity. These observations suggest that the decreased protein stability and altered subcellular localization of RPE65 may represent a mechanism for these mutations to lead to vision loss in LCA patients.<\/jats:p>","DOI":"10.1016\/j.febslet.2006.06.078","type":"journal-article","created":{"date-parts":[[2006,7,7]],"date-time":"2006-07-07T13:52:06Z","timestamp":1152280326000},"page":"4200-4204","source":"Crossref","is-referenced-by-count":19,"title":["Impacts of two point mutations of RPE65 from Leber's congenital amaurosis on the stability, subcellular localization and isomerohydrolase activity of RPE65"],"prefix":"10.1002","volume":"580","author":[{"given":"Ying","family":"Chen","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gennadiy","family":"Moiseyev","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuke","family":"Takahashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jian-xing","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,7,5]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.93.2.560"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1350-9462(01)00002-7"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1021\/cr960141c"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1751-1097.1992.tb09739.x"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.preteyeres.2004.03.001"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi00217a001"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0504167102"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.0503460102"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2005.06.042"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1021\/bi026911y"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0021-9258(18)82319-5"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.95.6.3088"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-194"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1097-139"},{"key":"e_1_2_7_16_1","first-page":"4293","article-title":"Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration","volume":"41","author":"Thompson D.A.","year":"2000","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1006\/geno.1999.5754"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.40.9.709"},{"key":"e_1_2_7_19_1","doi-asserted-by":"crossref","unstructured":"Takahashi Y. Chen Y. Moiseyev G. and Ma J.X. (2006) Two point mutations of RPE65 from patients with retinal dystrophies decrease the stability of RPE65 protein and abolish its isomerohydrolase activity. J. Biol. Chem. In press.","DOI":"10.1074\/jbc.M603725200"},{"key":"e_1_2_7_20_1","first-page":"1429","article-title":"Expression, purification, and MALDI analysis of RPE65","volume":"42","author":"Ma J.","year":"2001","journal-title":"Invest. Ophthalmol. Vis. Sci."},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1038\/3813"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1006\/abbi.1997.0276"}],"container-title":["FEBS Letters"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1016%2Fj.febslet.2006.06.078","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/pdf\/10.1016\/j.febslet.2006.06.078","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T13:42:42Z","timestamp":1697118162000},"score":1,"resource":{"primary":{"URL":"https:\/\/febs.onlinelibrary.wiley.com\/doi\/10.1016\/j.febslet.2006.06.078"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,7,5]]},"references-count":21,"journal-issue":{"issue":"17","published-print":{"date-parts":[[2006,7,24]]}},"alternative-id":["10.1016\/j.febslet.2006.06.078"],"URL":"https:\/\/doi.org\/10.1016\/j.febslet.2006.06.078","archive":["Portico"],"relation":{},"ISSN":["0014-5793","1873-3468"],"issn-type":[{"value":"0014-5793","type":"print"},{"value":"1873-3468","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,7,5]]}}}