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V715M-\u03b2APP significantly reduces A\u03b240 secretion without affecting A\u03b242 production in HEK293 cells. However, a marked increase in N-terminally truncated A\u03b2 ending at position 42 (x-42A\u03b2) is observed, whereas its counterpart x-40A\u03b2 is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of A\u03b2 but may be caused by increased production of truncated forms of A\u03b2 ending at the 42 position.<\/jats:p>","DOI":"10.1073\/pnas.96.7.4119","type":"journal-article","created":{"date-parts":[[2002,7,26]],"date-time":"2002-07-26T10:42:40Z","timestamp":1027680160000},"page":"4119-4124","update-policy":"https:\/\/doi.org\/10.1073\/pnas.cm10313","source":"Crossref","is-referenced-by-count":154,"title":["Unusual phenotypic alteration of \u03b2 amyloid precursor protein (\u03b2APP) maturation by a new Val-715 \u2192 Met \u03b2APP-770 mutation responsible for probable early-onset Alzheimer\u2019s disease"],"prefix":"10.1073","volume":"96","author":[{"given":"K.","family":"Ancolio","sequence":"first","affiliation":[{"name":"Institut de Pharmacologie Mol\u00e9culaire et Cellulaire du Centre National de la Recherche Scientifique, UPR 411, 660 Route des Lucioles, Sophia Antipolis, 06560 Valbonne, France; INSERM EMI-U9906, Facult\u00e9 de M\u00e9decine et de Pharmacie, IFRMP, Rouen, France; Hopital Universitaire, Strasbourg, France; and Centre Hospitalier Universitaire Piti\u00e9-Salp\u00eatri\u00e8re, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U289, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Dumanchin","sequence":"additional","affiliation":[{"name":"Institut de Pharmacologie Mol\u00e9culaire et Cellulaire du Centre National de la Recherche Scientifique, UPR 411, 660 Route des Lucioles, Sophia Antipolis, 06560 Valbonne, France; INSERM EMI-U9906, Facult\u00e9 de M\u00e9decine et de Pharmacie, IFRMP, Rouen, France; Hopital Universitaire, Strasbourg, France; and Centre Hospitalier Universitaire Piti\u00e9-Salp\u00eatri\u00e8re, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U289, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Barelli","sequence":"additional","affiliation":[{"name":"Institut de Pharmacologie Mol\u00e9culaire et Cellulaire du Centre National de la Recherche Scientifique, UPR 411, 660 Route des Lucioles, Sophia Antipolis, 06560 Valbonne, France; INSERM EMI-U9906, Facult\u00e9 de M\u00e9decine et de Pharmacie, IFRMP, Rouen, France; Hopital Universitaire, Strasbourg, France; and Centre Hospitalier Universitaire Piti\u00e9-Salp\u00eatri\u00e8re, Institut National de la Sant\u00e9 et de la Recherche M\u00e9dicale U289, Paris, France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J. 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