{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T16:41:24Z","timestamp":1777394484123,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAD"],"published-print":{"date-parts":[[2017,3,21]]},"DOI":"10.3233\/jad-161188","type":"journal-article","created":{"date-parts":[[2017,2,28]],"date-time":"2017-02-28T11:53:38Z","timestamp":1488282818000},"page":"613-623","source":"Crossref","is-referenced-by-count":11,"title":["A Novel PSEN1 K311R Mutation Discovered in Chinese Families with Late-Onset Alzheimer\u2019s Disease Affects Amyloid-\u03b2 Production and Tau Phosphorylation"],"prefix":"10.1177","volume":"57","author":[{"given":"Jing","family":"Dong","sequence":"first","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wei","family":"Qin","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"},{"name":"Center of Alzheimer\u2019s Disease, Beijing Institute for Brain Disorders, Beijing, P.R. China"},{"name":"Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, P.R. China"},{"name":"Key Neurodegenerative Laboratory of the Ministry of Education of the People\u2019s Republic of China, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cuibai","family":"Wei","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"},{"name":"Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, P.R. China"},{"name":"Key Neurodegenerative Laboratory of the Ministry of Education of the People\u2019s Republic of China, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Tang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Qi","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"},{"name":"Center of Alzheimer\u2019s Disease, Beijing Institute for Brain Disorders, Beijing, P.R. China"},{"name":"Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, P.R. China"},{"name":"Key Neurodegenerative Laboratory of the Ministry of Education of the People\u2019s Republic of China, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jianping","family":"Jia","sequence":"additional","affiliation":[{"name":"Department of Neurology, Xuan Wu Hospital, Capital Medical University, Beijing, P.R. China"},{"name":"Center of Alzheimer\u2019s Disease, Beijing Institute for Brain Disorders, Beijing, P.R. China"},{"name":"Beijing Key Laboratory of Geriatric Cognitive Disorders, Beijing, P.R. China"},{"name":"Key Neurodegenerative Laboratory of the Ministry of Education of the People\u2019s Republic of China, Beijing, P.R. China"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"key":"10.3233\/JAD-161188_ref1","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1016\/S0140-6736(06)69113-7","article-title":"Alzheimer\u2019s disease","volume":"368","author":"Blennow","year":"2006","journal-title":"Lancet"},{"key":"10.3233\/JAD-161188_ref3","doi-asserted-by":"crossref","first-page":"67","DOI":"10.1016\/j.jfma.2015.08.004","article-title":"A systematic review of familial Alzheimer\u2019s disease: Differences in presentation of clinical features among three mutated genes and potential ethnic differences","volume":"115","author":"Shea","year":"2016","journal-title":"J\u00a0Formos Med Assoc"},{"key":"10.3233\/JAD-161188_ref4","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1001\/jama.1997.03540340027028","article-title":"Clinical features of early-onset Alzheimer disease in a\u00a0large kindred with an E280A presenilin-1 mutation","volume":"10","author":"Lopera","year":"1997","journal-title":"JAMA"},{"key":"10.3233\/JAD-161188_ref5","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1186\/alzrt107","article-title":"Molecular consequences of amyloid precursor protein and presenilin mutations causing autosomal-dominant Alzheimer\u2019s disease","volume":"4","author":"Weggen","year":"2012","journal-title":"Alzheimers Res Ther"},{"key":"10.3233\/JAD-161188_ref6","doi-asserted-by":"crossref","first-page":"17136","DOI":"10.1074\/jbc.M909624199","article-title":"The nonconserved hydrophilic loop domain of presenilin (PS) is not required for PS endoproteolysis or enhanced Abeta 42 production mediated by familial early onset Alzheimer\u2019s disease-linked PS variants","volume":"275","author":"Saura","year":"2000","journal-title":"J\u00a0Biol Chem"},{"key":"10.3233\/JAD-161188_ref7","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1016\/j.neulet.2006.06.072","article-title":"Chinese Presenilin-1 V97L mutation enhanced Abeta42 levels in SH-SY5Y neuroblastoma cells","volume":"406","author":"Fang","year":"2006","journal-title":"Neurosci Lett"},{"key":"10.3233\/JAD-161188_ref8","doi-asserted-by":"crossref","first-page":"939","DOI":"10.1212\/WNL.34.7.939","article-title":"Clinical diagnosis of Alzheimer\u2019s disease: Report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer\u2019s Disease","volume":"34","author":"McKhann","year":"1984","journal-title":"Neurology"},{"key":"10.3233\/JAD-161188_ref9","doi-asserted-by":"crossref","first-page":"545","DOI":"10.1016\/S0022-2275(20)43176-1","article-title":"Restriction isotyping of human apolipoprotein E by gene amplification and cleavage with HhaI","volume":"31","author":"Hixson","year":"1990","journal-title":"J\u00a0Lipid Res"},{"key":"10.3233\/JAD-161188_ref10","doi-asserted-by":"crossref","first-page":"2263","DOI":"10.1021\/bi972106l","article-title":"Alzheimer\u2019s disease associated presenilin-1 holoprotein and its 18\u201320\u200akDa C-terminal fragment are death substrates for proteases of the caspase family","volume":"7","author":"Grunberg","year":"1998","journal-title":"Biochemistry"},{"key":"10.3233\/JAD-161188_ref11","doi-asserted-by":"crossref","first-page":"115","DOI":"10.1016\/j.neulet.2014.02.034","article-title":"A novel presenilin 1 mutation (Ala275Val) as cause of early-onset familial Alzheimer disease","volume":"566","author":"Luedecke","year":"2014","journal-title":"Neurosci Lett"},{"key":"10.3233\/JAD-161188_ref12","doi-asserted-by":"crossref","first-page":"1063","DOI":"10.1002\/humu.9458","article-title":"Biological effects of four PSEN1 gene mutations causing Alzheimer disease with spastic paraparesis and cotton wool plaques","volume":"10","author":"Dumanchin","year":"2006","journal-title":"Hum Mutat"},{"key":"10.3233\/JAD-161188_ref13","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1002\/ana.410400225","article-title":"Missense mutations of the PS-1\/S182 gene in German early-onset Alzheimer\u2019s disease patients","volume":"40","author":"Sandbrink","year":"1996","journal-title":"Ann Neurol"},{"key":"10.3233\/JAD-161188_ref14","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1093\/hmg\/7.1.43","article-title":"Estimation of the genetic contribution of presenilin-1 and -2 mutations in a\u00a0population-based study of presenile Alzheimer disease","volume":"7","author":"Cruts","year":"1998","journal-title":"Hum Mol Genet"},{"key":"10.3233\/JAD-161188_ref15","doi-asserted-by":"crossref","first-page":"1030","DOI":"10.1086\/509900","article-title":"Mutations of presenilin genes in dilated cardiomyopathy and heart failure","volume":"79","author":"Li","year":"2006","journal-title":"Am J\u00a0Hum Genet"},{"key":"10.3233\/JAD-161188_ref16","doi-asserted-by":"crossref","first-page":"1602.e3","DOI":"10.1016\/j.neurobiolaging.2014.11.009","article-title":"Identification of PSEN1 mutations p. M233L and p. R352C in Han Chinese families with early-onset familial Alzheimer\u2019s disease","volume":"36","author":"Jiang","year":"2015","journal-title":"Neurobiol Aging"},{"key":"10.3233\/JAD-161188_ref17","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1159\/000058328","article-title":"Familial frontotemporal dementia associated with a\u00a0novel presenilin-1 mutation","volume":"14","author":"Tang-Wai","year":"2002","journal-title":"Dement Geriatr Cogn Disord"},{"key":"10.3233\/JAD-161188_ref18","doi-asserted-by":"crossref","first-page":"1955","DOI":"10.1212\/01.wnl.0000219762.28324.a6","article-title":"The Thr354Ile substitution in PSEN1: Disease-causing mutation or polymorphism?","volume":"66","author":"Lee","year":"2006","journal-title":"Neurology"},{"key":"10.3233\/JAD-161188_ref19","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1212\/WNL.57.4.621","article-title":"Screening for PS1 mutations in a\u00a0referral-based series of AD cases: 21 novel mutations","volume":"57","author":"Rogaeva","year":"2001","journal-title":"Neurology"},{"key":"10.3233\/JAD-161188_ref20","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1016\/j.neurobiolaging.2008.06.012","article-title":"Genetic screening of Alzheimer\u2019s disease genes in Iberian and African samples yields novel mutations in presenilins and APP","volume":"31","author":"Guerreiro","year":"2010","journal-title":"Neurobiol Aging"},{"key":"10.3233\/JAD-161188_ref21","doi-asserted-by":"crossref","first-page":"3845","DOI":"10.1523\/JNEUROSCI.5384-05.2006","article-title":"Deletion of presenilin 1 hydrophilic loop sequence leads to impaired gamma-secretase ac tivity and exacerbated amyloid pathology","volume":"26","author":"Deng","year":"2006","journal-title":"J Neurosci"},{"key":"10.3233\/JAD-161188_ref22","doi-asserted-by":"crossref","first-page":"8527","DOI":"10.1074\/jbc.M109.055590","article-title":"The large hydrophilic loop of presenilin 1 is important for regulating gamma-secretase complex assembly and dictating the amyloid beta peptide (Abeta) Profile without affecting Notch processing","volume":"285","author":"Wanngren","year":"2010","journal-title":"J Biol Chem"},{"key":"10.3233\/JAD-161188_ref23","doi-asserted-by":"crossref","first-page":"9644","DOI":"10.1073\/pnas.1000778107","article-title":"Structural investigation of the C-terminal catalytic fragment of presenilin 1","volume":"107","author":"Sobhanifar","year":"2010","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.3233\/JAD-161188_ref24","doi-asserted-by":"crossref","first-page":"3071","DOI":"10.1097\/00001756-199909290-00036","article-title":"The L392V mutation of presenilin 1 associated with autosomal dominant early-onset Alzheimer\u2019s disease alters the secondary structure of the hydrophilic loop","volume":"10","author":"Gantier","year":"1999","journal-title":"Neuroreport"},{"key":"10.3233\/JAD-161188_ref25","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1006\/nbdi.1997.0129","article-title":"Presenilin proteins undergo heterogeneous endoproteolysis between Thr291 and Ala299 and occur as stable N- and C-terminal fragments in normal and Alzheimer brain tissue","volume":"3","author":"Podlisny","year":"1997","journal-title":"Neurobiol Dis"},{"key":"10.3233\/JAD-161188_ref26","doi-asserted-by":"crossref","first-page":"1167","DOI":"10.1111\/j.1471-4159.2006.03956.x","article-title":"Effects of endogenous beta-amyloid overproduction on tau phosphorylation in cell culture","volume":"98","author":"Wang","year":"2006","journal-title":"J Neurochem"},{"key":"10.3233\/JAD-161188_ref27","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1016\/0896-6273(95)90232-5","article-title":"beta-amyloid fibrils induce tau phosphorylation and loss of microtubule binding","volume":"14","author":"Busciglio","year":"1995","journal-title":"Neuron"},{"key":"10.3233\/JAD-161188_ref28","doi-asserted-by":"crossref","first-page":"31547","DOI":"10.1074\/jbc.M212532200","article-title":"Alpha 7 nicotinic acetylcholine receptors mediate beta-amyloid peptide-induced tau protein phosphorylation","volume":"34","author":"Wang","year":"2003","journal-title":"J Biol Chem"},{"key":"10.3233\/JAD-161188_ref29","doi-asserted-by":"crossref","first-page":"7789","DOI":"10.1073\/pnas.90.16.7789","article-title":"Tau protein kinase I is essential for amyloid beta-protein-induced neurotoxicity","volume":"90","author":"Takashima","year":"1993","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.3233\/JAD-161188_ref30","doi-asserted-by":"crossref","first-page":"9637","DOI":"10.1073\/pnas.95.16.9637","article-title":"Presenilin 1 associates with glycogen synthase kinase-3beta and its substrate tau","volume":"95","author":"Takashima","year":"1998","journal-title":"Proc Natl Acad Sci U S A"},{"key":"10.3233\/JAD-161188_ref31","doi-asserted-by":"crossref","first-page":"2586","DOI":"10.1038\/sj.emboj.7600251","article-title":"PS1 activates PI3K thus inhibiting GSK-3 activity and tau overphosphorylation: Effects of FAD mutations","volume":"23","author":"Baki","year":"2004","journal-title":"EMBO J"},{"key":"10.3233\/JAD-161188_ref32","doi-asserted-by":"crossref","first-page":"5037","DOI":"10.1074\/jbc.M509145200","article-title":"Formation of tau inclusions in knock-in mice with familial Alzheimer disease (FAD) mutation of presenilin 1 (PS1)","volume":"281","author":"Tanemura","year":"2006","journal-title":"J Biol Chem"},{"key":"10.3233\/JAD-161188_ref33","doi-asserted-by":"crossref","first-page":"5085","DOI":"10.1523\/JNEUROSCI.0317-12.2012","article-title":"Familial frontotemporal dementia-associated presenilin-1 c.548G>T mutation causes decreased mRNA expression and reduced presenilin function in knock-in mice","volume":"32","author":"Watanabe","year":"2012","journal-title":"J Neurosci"}],"container-title":["Journal of Alzheimer's Disease"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JAD-161188","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T10:03:26Z","timestamp":1777370606000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JAD-161188"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2017,3,21]]},"references-count":32,"journal-issue":{"issue":"2"},"URL":"https:\/\/doi.org\/10.3233\/jad-161188","relation":{},"ISSN":["1387-2877","1875-8908"],"issn-type":[{"value":"1387-2877","type":"print"},{"value":"1875-8908","type":"electronic"}],"subject":[],"published":{"date-parts":[[2017,3,21]]}}}