{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T08:27:31Z","timestamp":1768465651765,"version":"3.49.0"},"reference-count":20,"publisher":"Springer Science and Business Media LLC","issue":"7","license":[{"start":{"date-parts":[[1997,7,1]],"date-time":"1997-07-01T00:00:00Z","timestamp":867715200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Nat Med"],"published-print":{"date-parts":[[1997,7]]},"DOI":"10.1038\/nm0797-756","type":"journal-article","created":{"date-parts":[[2004,8,19]],"date-time":"2004-08-19T02:09:35Z","timestamp":1092881375000},"page":"756-760","source":"Crossref","is-referenced-by-count":115,"title":["Hyperaccumulation of FAD-linked presenilin 1 variants in vivo"],"prefix":"10.1038","volume":"3","author":[{"given":"Michael K.","family":"Lee","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"David R.","family":"Borchelt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Grace","family":"Kim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gopal","family":"Thinakaran","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hilda H.","family":"Slunt","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tamara","family":"Ratovitski","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lee J.","family":"Martin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anik","family":"Kittur","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Samuel","family":"Gandy","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allan I.","family":"Levey","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nancy","family":"Jenkins","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Neal","family":"Copeland","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Donald L.","family":"Price","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sangram S.","family":"Sisodia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"BFnm0797756_CR1","doi-asserted-by":"publisher","first-page":"754","DOI":"10.1038\/375754a0","volume":"375","author":"R Sherrington","year":"1995","unstructured":"Sherrington, R. et. al. Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature 375, 754\u2013760 (1995).","journal-title":"Nature"},{"key":"BFnm0797756_CR2","doi-asserted-by":"crossref","unstructured":"Alzheimar's Disease Collaborative Group. The structure of the presenilin 1 (S182) gene and identification of six novel mutations in early onset AD families. Nature Genet. 11, 219\u2013222 (1995).","DOI":"10.1038\/ng1095-219"},{"key":"BFnm0797756_CR3","doi-asserted-by":"publisher","first-page":"775","DOI":"10.1038\/376775a0","volume":"376","author":"EI Rogaev","year":"1995","unstructured":"Rogaev, E.I. et al. Familial Alzheimer's disease in kindreds with missense mutations in a gene on chromosome 1 related to the Alzheimer's disease type 3 gene. Nature 376, 775\u2013778 (1995).","journal-title":"Nature"},{"key":"BFnm0797756_CR4","doi-asserted-by":"publisher","first-page":"970","DOI":"10.1126\/science.7638621","volume":"269","author":"E Levy-Lahad","year":"1995","unstructured":"Levy-Lahad, E. et al. A familial Alzheimer's disease locus on chromosome 1. Science 269, 970\u2013973 (1995).","journal-title":"Science"},{"key":"BFnm0797756_CR5","doi-asserted-by":"publisher","first-page":"973","DOI":"10.1126\/science.7638622","volume":"269","author":"E Levy-Lahad","year":"1995","unstructured":"Levy-Lahad, E. et al. Candidate gene for the chromosome 1 familial Alzheimer's disease locus. Science 269, 973\u2013977 (1995).","journal-title":"Science"},{"key":"BFnm0797756_CR6","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. et al. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene. Neuroreport 7, 297\u2013301 (1995).","journal-title":"Neuroreport"},{"key":"BFnm0797756_CR7","doi-asserted-by":"publisher","first-page":"2373","DOI":"10.1093\/hmg\/4.12.2373","volume":"4","author":"D Campion","year":"1995","unstructured":"Campion, D. et al. Mutations of the presenilin 1 gene in families with early-onset Alzheimer's disease. Hum. Mol. Genet. 4, 2373\u20132377 (1995).","journal-title":"Hum. Mol. Genet."},{"key":"BFnm0797756_CR8","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1038\/nm0296-224","volume":"2","author":"DM Kovacs","year":"1996","unstructured":"Kovacs, D.M. et al. Alzheimer-associated presenilins 1 and 2: Neuronal expression in brain and localization to intracellular membranes in mammalian cells. Nature Med. 2, 224\u2013229 (1996).","journal-title":"Nature Med."},{"issue":"23","key":"BFnm0797756_CR9","doi-asserted-by":"publisher","first-page":"7513","DOI":"10.1523\/JNEUROSCI.16-23-07513.1996","volume":"16","author":"Michael K. Lee","year":"1996","unstructured":"Lee, M.K. et al. Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues. J. Neurosci. 16, 75137525 (1996).","journal-title":"The Journal of Neuroscience"},{"key":"BFnm0797756_CR10","doi-asserted-by":"publisher","first-page":"1015","DOI":"10.1016\/S0896-6273(00)80231-7","volume":"17","author":"X Li","year":"1996","unstructured":"Li, X. & Greenwald, I. Membrane topology of the C. elegans SEL-12 presenilin. Neuron 17, 1015\u20131021 (1996).","journal-title":"Neuron"},{"key":"BFnm0797756_CR11","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. et al. Protein topology of presenilin 1. Neuron 17, 1023\u20131030 (1996).","journal-title":"Neuron"},{"key":"BFnm0797756_CR12","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/S0896-6273(00)80291-3","volume":"17","author":"G Thinakaran","year":"1996","unstructured":"Thinakaran, G. et al. Endoproteolysis of presenilin 1 and accumulation of processed derivatives in vitro and in vivo. Neuron 17, 181\u2013190 (1996).","journal-title":"Neuron"},{"key":"BFnm0797756_CR13","doi-asserted-by":"publisher","first-page":"1971","DOI":"10.1523\/JNEUROSCI.17-06-01971.1997","volume":"19","author":"JJ Lah","year":"1997","unstructured":"Lah, J.J. et al. Light and electron microscopic localization of presenilin-1 in primate brain. J. Neurosci. 19, 1971\u20131980 (1997).","journal-title":"J. Neurosci."},{"key":"BFnm0797756_CR14","doi-asserted-by":"publisher","first-page":"14940","DOI":"10.1073\/pnas.93.25.14940","volume":"93","author":"D Levitan","year":"1966","unstructured":"Levitan, D. et al. Assessment of normal and mutant human presenilin function in Caenorhabditis elegans. Proc. Natl. Acad. Sci. USA 93, 14940\u201314944 (1966).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"issue":"5","key":"BFnm0797756_CR15","doi-asserted-by":"publisher","first-page":"1005","DOI":"10.1016\/S0896-6273(00)80230-5","volume":"17","author":"David R. Borchelt","year":"1996","unstructured":"Borchelt, D.R. et al. Familial Alzheimer's disease-linked presenilin 1 variants elevate A\u03b21 - 42\/1 -40 ratio in vitro and in vivo. Neuron 17, 1005\u20131013.","journal-title":"Neuron"},{"issue":"6602","key":"BFnm0797756_CR16","doi-asserted-by":"publisher","first-page":"710","DOI":"10.1038\/383710a0","volume":"383","author":"Karen Duff","year":"1996","unstructured":"Duff, K. et al. Increased amyloid-\u03b242(43) in brains of mice expressing mutant presenilin 1. Nature 383, 710\u2013713.","journal-title":"Nature"},{"issue":"1","key":"BFnm0797756_CR17","doi-asserted-by":"publisher","first-page":"67","DOI":"10.1038\/nm0197-67","volume":"3","author":"Martin Citron","year":"1997","unstructured":"Citron, M. 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. 3 67\u201372.","journal-title":"Nature Medicine"},{"key":"BFnm0797756_CR18","doi-asserted-by":"publisher","first-page":"45","DOI":"10.1016\/0896-6273(94)90458-8","volume":"13","author":"T Iwatsubo","year":"1994","unstructured":"Iwatsubo, T. et al. Visualization of A\u03b242(43) and A\u03b240 in senile plaques with end-specific A\u03b2 monoclonals: Evidence that an initially deposited species is A\u03b242(43). Neuron 13, 45\u201353 (1994).","journal-title":"Neuron"},{"key":"BFnm0797756_CR19","doi-asserted-by":"publisher","first-page":"1146","DOI":"10.1038\/nm1096-1146","volume":"2","author":"CA Lemere","year":"1996","unstructured":"Lemere, C.A. et al. The E280A presenilin 1 Alzheimer mutation produces increased A\u03b242 deposition and severe cerebellar pathology. Nature Med. 2, 1146\u20131150 (1996).","journal-title":"Nature Med."},{"key":"BFnm0797756_CR20","doi-asserted-by":"publisher","first-page":"16","DOI":"10.1006\/nbdi.1996.0003","volume":"3","author":"CA Lemere","year":"1996","unstructured":"Lemere, C.A. et al. Sequence of deposition of heterogeneous amyloid \u03b2-peptides and ApoE in Down syndrome: Implications of initial events in amyloid plaque formation. Neurobiol. Disease 3, 16\u201332 (1996).","journal-title":"Neurobiol. Disease"}],"container-title":["Nature Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/nm0797-756","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm0797-756.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/nm0797-756.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T23:26:17Z","timestamp":1684452377000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/nm0797-756"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1997,7]]},"references-count":20,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1997,7]]}},"alternative-id":["BFnm0797756"],"URL":"https:\/\/doi.org\/10.1038\/nm0797-756","relation":{},"ISSN":["1078-8956","1546-170X"],"issn-type":[{"value":"1078-8956","type":"print"},{"value":"1546-170X","type":"electronic"}],"subject":[],"published":{"date-parts":[[1997,7]]}}}