{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,3,6]],"date-time":"2026-03-06T16:42:04Z","timestamp":1772815324226,"version":"3.50.1"},"reference-count":21,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,8]],"date-time":"2004-10-08T00:00:00Z","timestamp":1097193600000},"content-version":"vor","delay-in-days":2441,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1998,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mutations in the presenilin 1 (PS1) gene on chromosome 14 are a major cause of autosomal dominant, early\u2010onset Alzheimer's disease. Here, we show that transfecting cells with several mutant, but not wild\u2010type, PS1 cDNAs alters the processing of the amyloid precursor protein (APP) such that more A\u03b242(43) is produced, confirming and extending several recent reports. The most effective mutation in this regard was the exon 9 splice\u2010out mutation (\u03b49). The correlation between the size of the effect on APP processing and the age of onset of disease assessed in families with the mutations was not informative, and the possible reasons for this are discussed.<\/jats:p>","DOI":"10.1002\/ana.410430217","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T15:12:24Z","timestamp":1104592344000},"page":"256-258","source":"Crossref","is-referenced-by-count":85,"title":["Increased A\u03b242(43) from cell lines expressing presenilin 1 mutations"],"prefix":"10.1002","volume":"43","author":[{"given":"Nitin D.","family":"Mehta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lawrence M.","family":"Refolo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chris","family":"Eckman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sunny","family":"Sanders","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Debra","family":"Yager","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jordi","family":"Perez\u2010Tur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steve","family":"Younkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Karen","family":"Duff","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hardy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mike","family":"Hutton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,8]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/349704a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/375754a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.7638622"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/376775a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0896-864"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80230-5"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1038\/nm0197-67"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1038\/383710a0"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00069a001"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410400205"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0166-2236(96)01030-2"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/5.Supplement_1.1449"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0165-6147(96)40003-7"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1095-219"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0896-6273(00)80291-3"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199512000-00071"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1192\/bjp.158.4.471"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-3940(94)90385-9"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.491"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410360307"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1097\/00001756-199602290-00029"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410430217","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410430217","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,28]],"date-time":"2023-10-28T15:17:08Z","timestamp":1698506228000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410430217"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1998,2]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1998,2]]}},"alternative-id":["10.1002\/ana.410430217"],"URL":"https:\/\/doi.org\/10.1002\/ana.410430217","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1998,2]]}}}