{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,12]],"date-time":"2025-10-12T07:48:00Z","timestamp":1760255280757},"reference-count":31,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[2002,8,1]],"date-time":"2002-08-01T00:00:00Z","timestamp":1028160000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2002,8,1]],"date-time":"2002-08-01T00:00:00Z","timestamp":1028160000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Psychiatry"],"published-print":{"date-parts":[[2002,8,1]]},"DOI":"10.1038\/sj.mp.4001072","type":"journal-article","created":{"date-parts":[[2002,9,3]],"date-time":"2002-09-03T21:09:08Z","timestamp":1031087348000},"page":"776-781","update-policy":"http:\/\/dx.doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Association between presenilin-1 Glu318Gly mutation and familial Alzheimer's disease in the Australian population"],"prefix":"10.1038","volume":"7","author":[{"given":"K","family":"Taddei","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Fisher","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S M","family":"Laws","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G","family":"Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Paton","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R M","family":"Clarnette","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C","family":"Chung","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W S","family":"Brooks","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Hallmayer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Miklossy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N","family":"Relkin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"P H","family":"St George-Hyslop","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"S E","family":"Gandy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R N","family":"Martins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2002,8,23]]},"reference":[{"key":"BF4001072_CR1","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/375754a0","volume":"375","author":"R Sherrington","year":"1995","unstructured":"Sherrington R, Rogaev EI, Liang Y, Rogaeva EA, Levesque G, Ikeda M et al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease Nature 1995; 375: 754\u2013760","journal-title":"Nature"},{"key":"BF4001072_CR2","doi-asserted-by":"publisher","first-page":"12047","DOI":"10.1074\/jbc.272.18.12047","volume":"272","author":"S Lehmann","year":"1997","unstructured":"Lehmann S, Chiesa R, Harris DS . Evidence for a six-transmembrane domain structure of presenilin 1 J Biol Chem 1997; 272: 12047\u201312051","journal-title":"J Biol Chem"},{"key":"BF4001072_CR3","doi-asserted-by":"publisher","first-page":"1023","DOI":"10.1016\/S0896-6273(00)80232-9","volume":"17","author":"A Doan","year":"1996","unstructured":"Doan A, Thinakaran G, Borchelt DR, Slunt HH, Ratovitsky T, Podlisny M et al. Protein topology of presenilin 1 Neuron 1996; 17: 1023\u20131030","journal-title":"Neuron"},{"key":"BF4001072_CR4","doi-asserted-by":"publisher","first-page":"188","DOI":"10.3109\/13506129509036925","volume":"2","author":"HH Slunt","year":"1995","unstructured":"Slunt HH, Thinakaran G, Lee MK, Sisodia SS . Nucleotide sequence of the chromosome 14-encoded S182 cDNA and revised secondary structure prediction Amyloid: Int J Exp Clin Invest 1995; 2: 188\u2013190","journal-title":"Amyloid: Int J Exp Clin Invest"},{"key":"BF4001072_CR5","doi-asserted-by":"publisher","first-page":"2363","DOI":"10.1093\/hmg\/4.12.2363","volume":"4","author":"M Cruts","year":"1995","unstructured":"Cruts M, Backhovens H, Wang S-Y, Van Gassen G, Theuns J, De Jonghe C et al. Molecular genetic analysis of familial early-onset Alzheimer's disease linked to chromosome 14q24.3 Hum Mol Genet 1995; 4: 2363\u20132371","journal-title":"Hum Mol Genet"},{"key":"BF4001072_CR6","doi-asserted-by":"publisher","first-page":"154","DOI":"10.1016\/S0166-2236(96)01030-2","volume":"20","author":"J Hardy","year":"1997","unstructured":"Hardy J . Amyloid, the presenilins and Alzheimer's disease Trends Neurosci 1997; 20: 154\u2013159","journal-title":"Trends Neurosci"},{"key":"BF4001072_CR7","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1002\/(SICI)1098-1004(1998)11:3<183::AID-HUMU1>3.0.CO;2-J","volume":"11","author":"M Cruts","year":"1998","unstructured":"Cruts M, Van Broeckhoven C . Presenilin mutations in Alzheimer's disease Hum Mutat 1998; 11: 183\u2013190","journal-title":"Hum Mutat"},{"key":"BF4001072_CR8","doi-asserted-by":"publisher","first-page":"1537","DOI":"10.1097\/00001756-199704140-00043","volume":"8","author":"JBJ Kwok","year":"1997","unstructured":"Kwok JBJ, Taddei K, Hallupp M, Fisher C, Brooks WS, Broe GA et al. Two novel (M233T and R278T) presenilin-1 mutations in early-onset Alzheimer's disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype NeuroReport 1997; 8: 1537\u20131542","journal-title":"NeuroReport"},{"key":"BF4001072_CR9","doi-asserted-by":"publisher","first-page":"3335","DOI":"10.1097\/00001756-199810050-00034","volume":"9","author":"K Taddei","year":"1998","unstructured":"Taddei K, Kwok JBJ, Kril JJ, Halliday GM, Creasey H, Hallupp M et al. Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimer's disease NeuroReport 1998; 9: 3335\u20133339","journal-title":"NeuroReport"},{"key":"BF4001072_CR10","doi-asserted-by":"publisher","first-page":"297","DOI":"10.1097\/00001756-199512000-00071","volume":"7","author":"J Perez-Tur","year":"1995","unstructured":"Perez-Tur J, Froelich S, Prihar G, Crook R, Baker M, Duff K et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene NeuroReport 1995; 7: 297\u2013301","journal-title":"NeuroReport"},{"key":"BF4001072_CR11","doi-asserted-by":"publisher","first-page":"621","DOI":"10.1212\/WNL.57.4.621","volume":"57","author":"EA Rogaeva","year":"2001","unstructured":"Rogaeva EA, Fafel KC, Song YQ, Medeiros H, Sato C, Liang Y et al. Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations Neurology 2001; 57: 621\u2013625","journal-title":"Neurology"},{"key":"BF4001072_CR12","doi-asserted-by":"publisher","first-page":"965","DOI":"10.1002\/ana.410440617","volume":"44","author":"KM Mattila","year":"1998","unstructured":"Mattila KM, Forsell C, Pirttil\u00e4 T, Rinne JO, Lehtim\u00e4ki T, R\u00f6ytt\u00e4 M et al. The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease Ann Neurol 1998; 44: 965\u2013967","journal-title":"Ann Neurol"},{"key":"BF4001072_CR13","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/ng1195-230","volume":"11","author":"C Van Broeckhoven","year":"1995","unstructured":"Van Broeckhoven C . Presenilins and Alzheimer disease Nature Genet 1995; 11: 230\u2013232","journal-title":"Nature Genet"},{"key":"BF4001072_CR14","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1002\/ana.410400225","volume":"40","author":"R Sandbrink","year":"1996","unstructured":"Sandbrink R, Zhang D, Schaeffer S, Masters CL, Bauer J, Forstl H et al. Missense mutations of the PS-1\/S182 gene in German early-onset Alzheimer's disease patients Ann Neurol 1996; 40: 265\u2013266","journal-title":"Ann Neurol"},{"key":"BF4001072_CR15","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1038\/sj.ejhg.5200160","volume":"6","author":"H Reznik-Wolf","year":"1998","unstructured":"Reznik-Wolf H, Treves TA, Shabtai H, Aharon-Peretz J, Chapman J, Davidson M et al. Germline mutational analysis of presenilin 1 and APP genes in Jewish\u2013Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE) Eur J Hum Genet 1998; 6: 176\u2013180","journal-title":"Eur J Hum Genet"},{"key":"BF4001072_CR16","doi-asserted-by":"publisher","first-page":"65","DOI":"10.1016\/S0304-3940(99)00891-5","volume":"278","author":"S Helisalmi","year":"2000","unstructured":"Helisalmi S, Hiltunen M, Mannermaa A, Koivisto AM, Lehtovirta M, Alafuzoff I et al. Is the presenilin-1 E318G missense mutation a risk factor for Alzheimer's disease? Neurosci Lett 2000; 278: 65\u201368","journal-title":"Neurosci Lett"},{"key":"BF4001072_CR17","doi-asserted-by":"publisher","first-page":"3","DOI":"10.1016\/S0304-3940(97)00603-4","volume":"234","author":"C Forsell","year":"1997","unstructured":"Forsell C, Froelich S, Axelman K, Vestling M, Cowburn RF, Lilius L et al. A novel pathogenic mutation (Leu262Phe) found in the presenilin 1 gene in early-onset Alzheimer's disease Neurosci Lett 1997; 234: 3\u20136","journal-title":"Neurosci Lett"},{"key":"BF4001072_CR18","doi-asserted-by":"publisher","first-page":"43","DOI":"10.1093\/hmg\/7.1.43","volume":"7","author":"M Cruts","year":"1998","unstructured":"Cruts M, van Duijn CM, Backhovens H, Van den Broeck M, Wehnert A, Serneels S et al. Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease Hum Mol Genet 1998; 7: 43\u201351","journal-title":"Hum Mol Genet"},{"key":"BF4001072_CR19","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1002\/ana.410440624","volume":"44","author":"J Aldudo","year":"1998","unstructured":"Aldudo J, Bullido MJ, Frank A, Valdivieso F . Missense mutation E318G of the presenilin-1 gene appears to be a nonpathogenic polymorphism Ann Neurol 1998; 44: 985\u2013986","journal-title":"Ann Neurol"},{"key":"BF4001072_CR20","doi-asserted-by":"publisher","first-page":"290","DOI":"10.1086\/302200","volume":"64","author":"B Dermaut","year":"1999","unstructured":"Dermaut B, Cruts M, Slooter AJC, Van Gestel S, De Jonghe C, Vanderstichele H et al. The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer's disease Am J Hum Genet 1999; 64: 290\u2013292","journal-title":"Am J Hum Genet"},{"key":"BF4001072_CR21","first-page":"87","volume-title":"Alzheimer's Disease and Related Disorders: Etiology, Pathogenesis and Therapeutics","author":"B Dermaut","year":"1999","unstructured":"Dermaut B, Cruts M, Slooter AJC, Van Gestel S, De Jonghe C, Backhovens H et al. Alzheimer's disease and related disorders\u2014Glu318Gly in presenilin-1 is a neutral mutation in relation to dementia: the Rotterdam study In: Iqbal K, Swaab DF, Winblad B, Wisniewski HM (eds) Alzheimer's Disease and Related Disorders: Etiology, Pathogenesis and Therapeutics John Wiley and Sons 1999; pp 87\u201392"},{"key":"BF4001072_CR22","unstructured":"American Psychiatric Association. Diagnostic and Statistical Manual of Mental Disorders, 4th edn APA: Washington DC 1994"},{"key":"BF4001072_CR23","doi-asserted-by":"publisher","first-page":"698","DOI":"10.1192\/bjp.149.6.698","volume":"149","author":"M Roth","year":"1986","unstructured":"Roth M, Tym E, Mountjoy CQ, Huppert FA, Hendrie H, Verma S et al. CAMDEX. A standardised instrument for the diagnosis of mental disorder in the elderly with special reference to the early detection of dementia Br J Psychiatry 1986; 149: 698\u2013709","journal-title":"Br J Psychiatry"},{"key":"BF4001072_CR24","doi-asserted-by":"publisher","first-page":"939","DOI":"10.1212\/WNL.34.7.939","volume":"34","author":"G McKhann","year":"1984","unstructured":"McKhann G, Drachman D, Folstein M, Katzman R, Price D, Stadlan EM . Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRA Work Group under the auspices of Department of Health and Human Task Force on Alzheimer's disease Neurology 1984; 34: 939\u2013944","journal-title":"Neurology"},{"key":"BF4001072_CR25","doi-asserted-by":"publisher","first-page":"483","DOI":"10.1016\/0378-1119(88)90181-3","volume":"74","author":"JE Hixson","year":"1988","unstructured":"Hixson JE, Borenstein L, Cox LA, Rainwater DL, VandeBerg JL . The baboon gene for apolipoprotein A-I: characterization of a cDNA clone and identification of DNA polymorphisms for genetic studies of cholesterol metabolism Gene 1988; 74: 483\u2013490","journal-title":"Gene"},{"key":"BF4001072_CR26","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","volume":"31","author":"JE Hixson","year":"1990","unstructured":"Hixson JE, Vernier DT . Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with Hhal J Lipid Res 1990; 31: 545\u2013548","journal-title":"J Lipid Res"},{"key":"BF4001072_CR27","doi-asserted-by":"publisher","first-page":"1513","DOI":"10.1097\/00001756-199507310-00012","volume":"6","author":"RN Martins","year":"1995","unstructured":"Martins RN, Clarnette R, Fisher C, Broe GA, Brooks WS, Montgomery P et al. ApoE genotypes in Australia: roles in early and late onset Alzheimer's disease and Down's syndrome NeuroReport 1995; 6: 1513\u20131516","journal-title":"NeuroReport"},{"key":"BF4001072_CR28","doi-asserted-by":"publisher","first-page":"879","DOI":"10.1097\/00001756-199903170-00038","volume":"10","author":"SM Laws","year":"1999","unstructured":"Laws SM, Taddei K, Martins G, Paton A, Fisher C, Clarnette R et al. The \u2212491AA polymorphism in the APOE gene is associated with increased plasma apoE levels in Alzheimer's disease NeuroReport 1999; 10: 879\u2013882","journal-title":"NeuroReport"},{"key":"BF4001072_CR29","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/nm0197-67","volume":"3","author":"M Citron","year":"1997","unstructured":"Citron M, Westaway D, Xia WM, Carlson G, Diehl T, Levesque G et al. Mutant presenilins of Alzheimer's disease increase production of 42-residue amyloid \u03b2-protein in both transfected cells and transgenic mice Nature Med 1997; 3: 67\u201372","journal-title":"Nature Med"},{"key":"BF4001072_CR30","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/S0304-3940(99)00187-1","volume":"265","author":"O Murayama","year":"1999","unstructured":"Murayama O, Tomita T, Nihonmatsu N, Murayama M, Sun X, Honda T et al. Enhancement of amyloid \u03b242 secretion by 28 different presenilin 1 mutations of familial Alzheimer's disease Neurosci Lett 1999; 265: 61\u201363","journal-title":"Neurosci Lett"},{"key":"BF4001072_CR31","doi-asserted-by":"publisher","first-page":"217","DOI":"10.1097\/00001756-199512000-00052","volume":"7","author":"RN Martins","year":"1995","unstructured":"Martins RN, Turner BA, Carroll RT, Sweeney D, Kim KS, Wisniewski HM et al. High levels of amyloid-\u03b2 protein from S182 (Glu246) familial Alzheimer's cells NeuroReport 1995; 7: 217\u2013220","journal-title":"NeuroReport"}],"container-title":["Molecular Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.nature.com\/articles\/4001072.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/4001072","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.nature.com\/articles\/4001072.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,4,1]],"date-time":"2022-04-01T04:07:38Z","timestamp":1648786058000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/4001072"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,8,1]]},"references-count":31,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2002,8,1]]}},"alternative-id":["BF4001072"],"URL":"https:\/\/doi.org\/10.1038\/sj.mp.4001072","relation":{},"ISSN":["1359-4184","1476-5578"],"issn-type":[{"value":"1359-4184","type":"print"},{"value":"1476-5578","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,8,1]]},"assertion":[{"value":"7 October 2001","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"27 December 2001","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"3 January 2002","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"23 August 2002","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}}]}}