{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T18:00:25Z","timestamp":1791914425063,"version":"4.3.4"},"reference-count":141,"publisher":"Springer Science and Business Media LLC","issue":"1","license":[{"start":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T00:00:00Z","timestamp":1673049600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"},{"start":{"date-parts":[[2023,1,7]],"date-time":"2023-01-07T00:00:00Z","timestamp":1673049600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["RF1 AG051504"],"award-info":[{"award-number":["RF1 AG051504"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01 AG046139"],"award-info":[{"award-number":["U01 AG046139"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01 AG061796"],"award-info":[{"award-number":["R01 AG061796"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["P50AG016574"],"award-info":[{"award-number":["P50AG016574"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R37AG027924"],"award-info":[{"award-number":["R37AG027924"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["RF1 AG051504"],"award-info":[{"award-number":["RF1 AG051504"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["P30 AG010133"],"award-info":[{"award-number":["P30 AG010133"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["P30 AG072976"],"award-info":[{"award-number":["P30 AG072976"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01 AG019771"],"award-info":[{"award-number":["R01 AG019771"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01 AG057739"],"award-info":[{"award-number":["R01 AG057739"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01 AG024904"],"award-info":[{"award-number":["U01 AG024904"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01 AG068193"],"award-info":[{"award-number":["R01 AG068193"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["T32 AG071444"],"award-info":[{"award-number":["T32 AG071444"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01 AG068057"],"award-info":[{"award-number":["U01 AG068057"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["U01 AG072177"],"award-info":[{"award-number":["U01 AG072177"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000049","name":"National Institute on Aging","doi-asserted-by":"publisher","award":["R01 AG069901"],"award-info":[{"award-number":["R01 AG069901"]}],"id":[{"id":"10.13039\/100000049","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000092","name":"U.S. National Library of Medicine","doi-asserted-by":"publisher","award":["R01 LM013463"],"award-info":[{"award-number":["R01 LM013463"]}],"id":[{"id":"10.13039\/100000092","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000092","name":"U.S. National Library of Medicine","doi-asserted-by":"publisher","award":["R01 LM012535"],"award-info":[{"award-number":["R01 LM012535"]}],"id":[{"id":"10.13039\/100000092","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Mol Neurodegeneration"],"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Alzheimer\u2019s disease (AD) is neuropathologically characterized by amyloid-beta (A\u03b2) plaques and neurofibrillary tangles. The main protein components of these hallmarks include A\u03b240, A\u03b242, tau, phosphor-tau, and APOE. We hypothesize that genetic variants influence the levels and solubility of these AD-related proteins in the brain; identifying these may provide key insights into disease pathogenesis.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>Genome-wide genotypes were collected from 441\u2009AD cases, imputed to the haplotype reference consortium (HRC) panel, and filtered for quality and frequency. Temporal cortex levels of five AD-related proteins from three fractions, buffer-soluble (TBS), detergent-soluble (Triton-X\u2009=\u2009TX), and insoluble (Formic acid\u2009=\u2009FA), were available for these same individuals. Variants were tested for association with each quantitative biochemical measure using linear regression, and GSA-SNP2 was used to identify enriched Gene Ontology (GO) terms. Implicated variants and genes were further assessed for association with other relevant variables.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      We identified genome-wide significant associations at seven novel loci and the\n                      <jats:italic>APOE<\/jats:italic>\n                      locus. Genes and variants at these loci also associate with multiple AD-related measures, regulate gene expression, have cell-type specific enrichment, and roles in brain health and other neuropsychiatric diseases. Pathway analysis identified significant enrichment of shared and distinct biological pathways.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusions<\/jats:title>\n                    <jats:p>Although all biochemical measures tested reflect proteins core to AD pathology, our results strongly suggest that each have unique genetic architecture and biological pathways that influence their specific biochemical states in the brain. Our novel approach of deep brain biochemical endophenotype GWAS has implications for pathophysiology of proteostasis in AD that can guide therapeutic discovery efforts focused on these proteins.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1186\/s13024-022-00592-2","type":"journal-article","created":{"date-parts":[[2023,1,6]],"date-time":"2023-01-06T21:06:06Z","timestamp":1673039166000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":25,"title":["Genome-wide association study of brain biochemical phenotypes reveals distinct genetic architecture of Alzheimer\u2019s disease related proteins"],"prefix":"10.1186","volume":"18","author":[{"given":"Stephanie R.","family":"Oatman","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joseph S.","family":"Reddy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zachary","family":"Quicksall","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minerva M.","family":"Carrasquillo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xue","family":"Wang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chia-Chen","family":"Liu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Yamazaki","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Thuy T.","family":"Nguyen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kimberly","family":"Malphrus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"Heckman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kristi","family":"Biswas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kwangsik","family":"Nho","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew","family":"Baker","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka A.","family":"Martens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Na","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jun Pyo","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shannon L.","family":"Risacher","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rosa","family":"Rademakers","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew J.","family":"Saykin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael","family":"DeTure","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Melissa E.","family":"Murray","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takahisa","family":"Kanekiyo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"name":"for the Alzheimer\u2019s Disease Neuroimaging Initiative","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dennis W.","family":"Dickson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Guojun","family":"Bu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mariet","family":"Allen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4436-8889","authenticated-orcid":false,"given":"Nil\u00fcfer","family":"Ertekin-Taner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2023,1,7]]},"reference":[{"key":"592_CR1","doi-asserted-by":"publisher","unstructured":"2017 Alzheimer\u2019s disease facts and figures. Alzheimers Dement. 2017;13:325\u201373. https:\/\/doi.org\/10.1016\/j.jalz.2017.02.001.","DOI":"10.1016\/j.jalz.2017.02.001"},{"key":"592_CR2","doi-asserted-by":"publisher","first-page":"32","DOI":"10.1186\/s13024-019-0333-5","volume":"14","author":"MA DeTure","year":"2019","unstructured":"DeTure MA, Dickson DW. The neuropathological diagnosis of Alzheimer\u2019s disease. Mol Neurodegener. 2019;14:32. https:\/\/doi.org\/10.1186\/s13024-019-0333-5.","journal-title":"Mol Neurodegener"},{"key":"592_CR3","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1186\/alzrt155","volume":"5","author":"B Lam","year":"2013","unstructured":"Lam B, Masellis M, Freedman M, Stuss DT, Black SE. Clinical, imaging, and pathological heterogeneity of the Alzheimer\u2019s disease syndrome. Alzheimers Res Ther. 2013;5:1\u20131. https:\/\/doi.org\/10.1186\/alzrt155.","journal-title":"Alzheimers Res Ther"},{"key":"592_CR4","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1016\/0304-3940(94)90608-4","volume":"171","author":"O Yasuhara","year":"1994","unstructured":"Yasuhara O, Kawamata T, Aimi Y, McGeer EG, McGeer PL. Two types of dystrophic neurites in senile plaques of Alzheimer disease and elderly non-demented cases. Neurosci Lett. 1994;171:73\u20136. https:\/\/doi.org\/10.1016\/0304-3940(94)90608-4.","journal-title":"Neurosci Lett"},{"key":"592_CR5","doi-asserted-by":"publisher","first-page":"681","DOI":"10.1007\/s00401-012-1044-y","volume":"124","author":"NJ Janocko","year":"2012","unstructured":"Janocko NJ, et al. Neuropathologically defined subtypes of Alzheimer\u2019s disease differ significantly from neurofibrillary tangle-predominant dementia. Acta Neuropathol. 2012;124:681\u201392. https:\/\/doi.org\/10.1007\/s00401-012-1044-y.","journal-title":"Acta Neuropathol"},{"key":"592_CR6","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1007\/s00401-014-1302-2","volume":"128","author":"ME Murray","year":"2014","unstructured":"Murray ME, et al. Differential clinicopathologic and genetic features of late-onset amnestic dementias. Acta Neuropathol. 2014;128:411\u201321. https:\/\/doi.org\/10.1007\/s00401-014-1302-2.","journal-title":"Acta Neuropathol"},{"key":"592_CR7","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1097\/wco.0000000000000912","volume":"34","author":"RI Mehta","year":"2021","unstructured":"Mehta RI, Schneider JA. What is \u2018Alzheimer\u2019s disease\u2019? The neuropathological heterogeneity of clinically defined Alzheimer\u2019s dementia. Curr Opin Neurol. 2021;34:237\u201345. https:\/\/doi.org\/10.1097\/wco.0000000000000912.","journal-title":"Curr Opin Neurol"},{"key":"592_CR8","doi-asserted-by":"publisher","unstructured":"Lau HHC, Ingelsson M, Watts JC. The existence of Abeta strains and their potential for driving phenotypic heterogeneity in Alzheimer\u2019s disease. Acta Neuropathol. 2020. https:\/\/doi.org\/10.1007\/s00401-020-02201-2.","DOI":"10.1007\/s00401-020-02201-2"},{"key":"592_CR9","doi-asserted-by":"publisher","first-page":"172","DOI":"10.1016\/s0925-4439(00)00043-0","volume":"1502","author":"TE Golde","year":"2000","unstructured":"Golde TE, Eckman CB, Younkin SG. Biochemical detection of Abeta isoforms: implications for pathogenesis, diagnosis, and treatment of Alzheimer\u2019s disease. Biochim Biophys Acta. 2000;1502:172\u201387. https:\/\/doi.org\/10.1016\/s0925-4439(00)00043-0.","journal-title":"Biochim Biophys Acta"},{"key":"592_CR10","doi-asserted-by":"publisher","first-page":"15056","DOI":"10.1038\/nrdp.2015.56","volume":"1","author":"CL Masters","year":"2015","unstructured":"Masters CL, et al. Alzheimer\u2019s disease. Nat Rev Dis Primers. 2015;1:15056. https:\/\/doi.org\/10.1038\/nrdp.2015.56.","journal-title":"Nat Rev Dis Primers"},{"key":"592_CR11","doi-asserted-by":"publisher","first-page":"383","DOI":"10.14336\/AD.2018.0425","volume":"10","author":"C Bi","year":"2019","unstructured":"Bi C, Bi S, Li B. Processing of mutant \u03b2-amyloid precursor protein and the clinicopathological features of familial Alzheimer\u2019s disease. Aging Dis. 2019;10:383\u2013403. https:\/\/doi.org\/10.14336\/AD.2018.0425.","journal-title":"Aging Dis"},{"key":"592_CR12","doi-asserted-by":"publisher","first-page":"656","DOI":"10.2174\/156720510793611592","volume":"7","author":"K Iqbal","year":"2010","unstructured":"Iqbal K, Liu F, Gong CX, Grundke-Iqbal I. Tau in Alzheimer disease and related tauopathies. Curr Alzheimer Res. 2010;7:656\u201364. https:\/\/doi.org\/10.2174\/156720510793611592.","journal-title":"Curr Alzheimer Res"},{"key":"592_CR13","doi-asserted-by":"publisher","first-page":"355","DOI":"10.1016\/0197-4580(95)00025-A","volume":"16","author":"EM Mandelkow","year":"1995","unstructured":"Mandelkow EM, et al. Tau domains, phosphorylation, and interactions with microtubules. Neurobiol Aging. 1995;16:355\u201362. https:\/\/doi.org\/10.1016\/0197-4580(95)00025-A.","journal-title":"Neurobiol Aging"},{"key":"592_CR14","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1016\/j.neuropharm.2013.09.018","volume":"76","author":"AM Pooler","year":"2014","unstructured":"Pooler AM, Noble W, Hanger DP. A role for tau at the synapse in Alzheimer\u2019s disease pathogenesis. Neuropharmacology. 2014;76:1\u20138. https:\/\/doi.org\/10.1016\/j.neuropharm.2013.09.018.","journal-title":"Neuropharmacology"},{"key":"592_CR15","doi-asserted-by":"publisher","first-page":"665","DOI":"10.1007\/s00401-017-1707-9","volume":"133","author":"T Guo","year":"2017","unstructured":"Guo T, Noble W, Hanger DP. Roles of tau protein in health and disease. Acta Neuropathol. 2017;133:665\u2013704. https:\/\/doi.org\/10.1007\/s00401-017-1707-9.","journal-title":"Acta Neuropathol"},{"key":"592_CR16","doi-asserted-by":"publisher","first-page":"414","DOI":"10.1038\/s41588-019-0358-2","volume":"51","author":"BW Kunkle","year":"2019","unstructured":"Kunkle BW, et al. Genetic meta-analysis of diagnosed Alzheimer\u2019s disease identifies new risk loci and implicates A\u03b2, tau, immunity and lipid processing. Nat Genet. 2019;51:414\u201330. https:\/\/doi.org\/10.1038\/s41588-019-0358-2.","journal-title":"Nat Genet"},{"key":"592_CR17","doi-asserted-by":"publisher","first-page":"1452","DOI":"10.1038\/ng.2802","volume":"45","author":"JC Lambert","year":"2013","unstructured":"Lambert JC, et al. Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer\u2019s disease. Nat Genet. 2013;45:1452\u20138. https:\/\/doi.org\/10.1038\/ng.2802.","journal-title":"Nat Genet"},{"key":"592_CR18","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1038\/s41588-018-0311-9","volume":"51","author":"IE Jansen","year":"2019","unstructured":"Jansen IE, et al. Genome-wide meta-analysis identifies new loci and functional pathways influencing Alzheimer\u2019s disease risk. Nat Genet. 2019;51:404\u201313. https:\/\/doi.org\/10.1038\/s41588-018-0311-9.","journal-title":"Nat Genet"},{"key":"592_CR19","doi-asserted-by":"publisher","first-page":"740","DOI":"10.1016\/j.neuron.2014.01.045","volume":"81","author":"T Kanekiyo","year":"2014","unstructured":"Kanekiyo T, Xu H, Bu G. ApoE and A\u03b2 in Alzheimer\u2019s disease: accidental encounters or partners? Neuron. 2014;81:740\u201354. https:\/\/doi.org\/10.1016\/j.neuron.2014.01.045.","journal-title":"Neuron"},{"key":"592_CR20","doi-asserted-by":"publisher","first-page":"906","DOI":"10.1001\/archneur.65.7.906","volume":"65","author":"JR Steinerman","year":"2008","unstructured":"Steinerman JR, et al. Distinct pools of beta-amyloid in Alzheimer disease-affected brain: a clinicopathologic study. Arch Neurol. 2008;65:906\u201312. https:\/\/doi.org\/10.1001\/archneur.65.7.906.","journal-title":"Arch Neurol"},{"key":"592_CR21","doi-asserted-by":"publisher","first-page":"1486","DOI":"10.1093\/brain\/awx057","volume":"140","author":"BR Roberts","year":"2017","unstructured":"Roberts BR, et al. Biochemically-defined pools of amyloid-\u03b2 in sporadic Alzheimer\u2019s disease: correlation with amyloid PET. Brain. 2017;140:1486\u201398. https:\/\/doi.org\/10.1093\/brain\/awx057.","journal-title":"Brain"},{"key":"592_CR22","doi-asserted-by":"publisher","first-page":"1678","DOI":"10.1038\/s41467-017-01575-4","volume":"8","author":"N Ait-Bouziad","year":"2017","unstructured":"Ait-Bouziad N, et al. Discovery and characterization of stable and toxic tau\/phospholipid oligomeric complexes. Nat Commun. 2017;8:1678. https:\/\/doi.org\/10.1038\/s41467-017-01575-4.","journal-title":"Nat Commun"},{"key":"592_CR23","doi-asserted-by":"publisher","first-page":"91","DOI":"10.1111\/j.1365-2990.1987.tb00174.x","volume":"13","author":"EG Gray","year":"1987","unstructured":"Gray EG, Paula-Barbosa M, Roher A. Alzheimer\u2019s disease: paired helical filaments and cytomembranes. Neuropathol Appl Neurobiol. 1987;13:91\u2013110. https:\/\/doi.org\/10.1111\/j.1365-2990.1987.tb00174.x.","journal-title":"Neuropathol Appl Neurobiol"},{"key":"592_CR24","doi-asserted-by":"publisher","first-page":"497","DOI":"10.1023\/a:1007075115574","volume":"20","author":"FJ Ekinci","year":"2000","unstructured":"Ekinci FJ, Shea TB. Phosphorylation of tau alters its association with the plasma membrane. Cell Mol Neurobiol. 2000;20:497\u2013508. https:\/\/doi.org\/10.1023\/a:1007075115574.","journal-title":"Cell Mol Neurobiol"},{"key":"592_CR25","doi-asserted-by":"crossref","unstructured":"Shea TB. Phospholipids alter tau conformation, phosphorylation, proteolysis, and association with microtubules: implication for tau function under normal and degenerative conditions. J Neurosci Res. 1997;50:114\u201322.\u00a0\u00a0https:\/\/doi.org\/10.1002\/(sici)1097-4547(19971001)50:1<114::Aid-jnr12>3.0.Co;2-b.","DOI":"10.1002\/(SICI)1097-4547(19971001)50:1<114::AID-JNR12>3.0.CO;2-B"},{"key":"592_CR26","doi-asserted-by":"publisher","first-page":"2539","DOI":"10.1021\/bi201857v","volume":"51","author":"EM Jones","year":"2012","unstructured":"Jones EM, et al. Interaction of tau protein with model lipid membranes induces tau structural compaction and membrane disruption. Biochemistry. 2012;51:2539\u201350. https:\/\/doi.org\/10.1021\/bi201857v.","journal-title":"Biochemistry"},{"key":"592_CR27","doi-asserted-by":"publisher","first-page":"2722","DOI":"10.1016\/j.bpj.2010.03.013","volume":"98","author":"S Elbaum-Garfinkle","year":"2010","unstructured":"Elbaum-Garfinkle S, Ramlall T, Rhoades E. The role of the lipid bilayer in tau aggregation. Biophys J. 2010;98:2722\u201330. https:\/\/doi.org\/10.1016\/j.bpj.2010.03.013.","journal-title":"Biophys J"},{"key":"592_CR28","doi-asserted-by":"publisher","first-page":"1721","DOI":"10.1007\/s00018-019-03349-1","volume":"77","author":"CA Brunello","year":"2020","unstructured":"Brunello CA, Merezhko M, Uronen R-L, Huttunen HJ. Mechanisms of secretion and spreading of pathological tau protein. Cell Mol Life Sci. 2020;77:1721\u201344. https:\/\/doi.org\/10.1007\/s00018-019-03349-1.","journal-title":"Cell Mol Life Sci"},{"key":"592_CR29","doi-asserted-by":"publisher","first-page":"484","DOI":"10.1111\/j.1750-3639.2008.00147.x","volume":"18","author":"I Alafuzoff","year":"2008","unstructured":"Alafuzoff I, et al. Staging of neurofibrillary pathology in Alzheimer\u2019s disease: a study of the BrainNet Europe consortium. Brain Pathol. 2008;18:484\u201396. https:\/\/doi.org\/10.1111\/j.1750-3639.2008.00147.x.","journal-title":"Brain Pathol"},{"key":"592_CR30","doi-asserted-by":"publisher","first-page":"875","DOI":"10.1007\/s00401-016-1632-3","volume":"132","author":"DJ Koss","year":"2016","unstructured":"Koss DJ, et al. Soluble pre-fibrillar tau and \u03b2-amyloid species emerge in early human Alzheimer\u2019s disease and track disease progression and cognitive decline. Acta Neuropathol. 2016;132:875\u201395. https:\/\/doi.org\/10.1007\/s00401-016-1632-3.","journal-title":"Acta Neuropathol"},{"key":"592_CR31","doi-asserted-by":"publisher","first-page":"eaaz2387","DOI":"10.1126\/sciadv.aaz2387","volume":"6","author":"N Mattsson-Carlgren","year":"2020","unstructured":"Mattsson-Carlgren N, et al. A\u03b2 deposition is associated with increases in soluble and phosphorylated tau that precede a positive tau PET in Alzheimer\u2019s disease. Sci Adv. 2020;6:eaaz2387. https:\/\/doi.org\/10.1126\/sciadv.aaz2387.","journal-title":"Sci Adv"},{"key":"592_CR32","doi-asserted-by":"publisher","first-page":"1372","DOI":"10.1002\/alz.12104","volume":"16","author":"C-C Liu","year":"2020","unstructured":"Liu C-C, et al. Tau and apolipoprotein E modulate cerebrovascular tight junction integrity independent of cerebral amyloid angiopathy in Alzheimer\u2019s disease. Alzheimers Dement. 2020;16:1372\u201383. https:\/\/doi.org\/10.1002\/alz.12104.","journal-title":"Alzheimers Dement"},{"key":"592_CR33","doi-asserted-by":"publisher","first-page":"239","DOI":"10.1007\/bf00308809","volume":"82","author":"H Braak","year":"1991","unstructured":"Braak H, Braak E. Neuropathological stageing of Alzheimer-related changes. Acta Neuropathol. 1991;82:239\u201359. https:\/\/doi.org\/10.1007\/bf00308809.","journal-title":"Acta Neuropathol"},{"key":"592_CR34","doi-asserted-by":"publisher","first-page":"1791","DOI":"10.1212\/wnl.58.12.1791","volume":"58","author":"DR Thal","year":"2002","unstructured":"Thal DR, R\u00fcb U, Orantes M, Braak H. Phases of a beta-deposition in the human brain and its relevance for the development of AD. Neurology. 2002;58:1791\u2013800. https:\/\/doi.org\/10.1212\/wnl.58.12.1791.","journal-title":"Neurology"},{"key":"592_CR35","doi-asserted-by":"publisher","first-page":"785","DOI":"10.1016\/S1474-4422(11)70156-9","volume":"10","author":"ME Murray","year":"2011","unstructured":"Murray ME, et al. Neuropathologically defined subtypes of Alzheimer\u2019s disease with distinct clinical characteristics: a retrospective study. Lancet Neurol. 2011;10:785\u201396. https:\/\/doi.org\/10.1016\/S1474-4422(11)70156-9.","journal-title":"Lancet Neurol"},{"key":"592_CR36","doi-asserted-by":"publisher","first-page":"1370","DOI":"10.1093\/brain\/awv050","volume":"138","author":"ME Murray","year":"2015","unstructured":"Murray ME, et al. Clinicopathologic and 11C-Pittsburgh compound B implications of Thal amyloid phase across the Alzheimer\u2019s disease spectrum. Brain. 2015;138:1370\u201381. https:\/\/doi.org\/10.1093\/brain\/awv050.","journal-title":"Brain"},{"key":"592_CR37","doi-asserted-by":"publisher","first-page":"93","DOI":"10.1186\/s40478-021-01199-2","volume":"9","author":"JS Reddy","year":"2021","unstructured":"Reddy JS, et al. Genome-wide analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer\u2019s disease. Acta Neuropathol Commun. 2021;9:93. https:\/\/doi.org\/10.1186\/s40478-021-01199-2.","journal-title":"Acta Neuropathol Commun"},{"key":"592_CR38","doi-asserted-by":"publisher","unstructured":"Chang CC, et al. Second-generation PLINK: rising to the challenge of larger and richer datasets. GigaScience. 2015;4. https:\/\/doi.org\/10.1186\/s13742-015-0047-8.","DOI":"10.1186\/s13742-015-0047-8"},{"key":"592_CR39","doi-asserted-by":"publisher","first-page":"559","DOI":"10.1086\/519795","volume":"81","author":"S Purcell","year":"2007","unstructured":"Purcell S, et al. PLINK: a tool set for whole-genome association and population-based linkage analyses. Am J Hum Genet. 2007;81:559\u201375. https:\/\/doi.org\/10.1086\/519795.","journal-title":"Am J Hum Genet"},{"key":"592_CR40","doi-asserted-by":"publisher","first-page":"1443","DOI":"10.1038\/ng.3679","volume":"48","author":"P-R Loh","year":"2016","unstructured":"Loh P-R, et al. Reference-based phasing using the haplotype reference consortium panel. Nat Genet. 2016;48:1443\u20138. https:\/\/doi.org\/10.1038\/ng.3679.","journal-title":"Nat Genet"},{"key":"592_CR41","doi-asserted-by":"publisher","first-page":"1279","DOI":"10.1038\/ng.3643","volume":"48","author":"S McCarthy","year":"2016","unstructured":"McCarthy S, et al. A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet. 2016;48:1279\u201383. https:\/\/doi.org\/10.1038\/ng.3643.","journal-title":"Nat Genet"},{"key":"592_CR42","doi-asserted-by":"publisher","first-page":"160089","DOI":"10.1038\/sdata.2016.89","volume":"3","author":"M Allen","year":"2016","unstructured":"Allen M, et al. Human whole genome genotype and transcriptome data for Alzheimer\u2019s and other neurodegenerative diseases. Sci Data. 2016;3:160089. https:\/\/doi.org\/10.1038\/sdata.2016.89.","journal-title":"Sci Data"},{"key":"592_CR43","doi-asserted-by":"publisher","first-page":"180185","DOI":"10.1038\/sdata.2018.185","volume":"5","author":"M Wang","year":"2018","unstructured":"Wang M, et al. The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer\u2019s disease. Sci Data. 2018;5:180185. https:\/\/doi.org\/10.1038\/sdata.2018.185.","journal-title":"Sci Data"},{"key":"592_CR44","doi-asserted-by":"publisher","first-page":"180142","DOI":"10.1038\/sdata.2018.142","volume":"5","author":"PL De Jager","year":"2018","unstructured":"De Jager PL, et al. A multi-omic atlas of the human frontal cortex for aging and Alzheimer\u2019s disease research. Sci Data. 2018;5:180142. https:\/\/doi.org\/10.1038\/sdata.2018.142.","journal-title":"Sci Data"},{"key":"592_CR45","doi-asserted-by":"publisher","first-page":"107908","DOI":"10.1016\/j.celrep.2020.107908","volume":"32","author":"YW Wan","year":"2020","unstructured":"Wan YW, et al. Meta-analysis of the Alzheimer\u2019s disease human brain transcriptome and functional dissection in mouse models. Cell Rep. 2020;32:107908. https:\/\/doi.org\/10.1016\/j.celrep.2020.107908.","journal-title":"Cell Rep"},{"key":"592_CR46","doi-asserted-by":"publisher","first-page":"479","DOI":"10.1212\/wnl.41.4.479","volume":"41","author":"SS Mirra","year":"1991","unstructured":"Mirra SS, et al. The consortium to establish a registry for Alzheimer\u2019s disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer\u2019s disease. Neurology. 1991;41:479\u201386. https:\/\/doi.org\/10.1212\/wnl.41.4.479.","journal-title":"Neurology"},{"key":"592_CR47","volume-title":"Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM","author":"H Li","year":"2013","unstructured":"Li H. Aligning sequence reads, clone sequences and assembly contigs with BWA-MEM; 2013. https:\/\/arxiv.org\/abs\/1303.3997"},{"key":"592_CR48","unstructured":"Picard Toolkit. Broad Institute, GitHub Repository. Broad Institute; 2019. Picard version 1.83. https:\/\/broadinstitute.github.io\/picard\/."},{"issue":"1110","key":"592_CR49","doi-asserted-by":"publisher","first-page":"11","DOI":"10.1002\/0471250953.bi1110s43","volume":"43","author":"GA Van der Auwera","year":"2013","unstructured":"Van der Auwera GA, et al. From FastQ data to high confidence variant calls: the genome analysis toolkit best practices pipeline. Curr Protoc Bioinformatics. 2013;43(1110):11\u201333. https:\/\/doi.org\/10.1002\/0471250953.bi1110s43.","journal-title":"Curr Protoc Bioinformatics"},{"key":"592_CR50","doi-asserted-by":"publisher","first-page":"2867","DOI":"10.1093\/bioinformatics\/btq559","volume":"26","author":"A Manichaikul","year":"2010","unstructured":"Manichaikul A, et al. Robust relationship inference in genome-wide association studies. Bioinformatics. 2010;26:2867\u201373. https:\/\/doi.org\/10.1093\/bioinformatics\/btq559.","journal-title":"Bioinformatics"},{"key":"592_CR51","doi-asserted-by":"publisher","first-page":"e190","DOI":"10.1371\/journal.pgen.0020190","volume":"2","author":"N Patterson","year":"2006","unstructured":"Patterson N, Price AL, Reich D. Population structure and eigenanalysis. PLoS Genet. 2006;2:e190. https:\/\/doi.org\/10.1371\/journal.pgen.0020190.","journal-title":"PLoS Genet"},{"key":"592_CR52","doi-asserted-by":"publisher","first-page":"904","DOI":"10.1038\/ng1847","volume":"38","author":"AL Price","year":"2006","unstructured":"Price AL, et al. Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet. 2006;38:904\u20139. https:\/\/doi.org\/10.1038\/ng1847.","journal-title":"Nat Genet"},{"key":"592_CR53","doi-asserted-by":"publisher","first-page":"S1","DOI":"10.1016\/j.jalz.2011.09.172","volume":"8","author":"MW Weiner","year":"2012","unstructured":"Weiner MW, et al. The Alzheimer\u2019s disease neuroimaging initiative: a review of papers published since its inception. Alzheimers Dement. 2012;8:S1\u201368. https:\/\/doi.org\/10.1016\/j.jalz.2011.09.172.","journal-title":"Alzheimers Dement"},{"key":"592_CR54","doi-asserted-by":"publisher","first-page":"792","DOI":"10.1016\/j.jalz.2015.05.009","volume":"11","author":"AJ Saykin","year":"2015","unstructured":"Saykin AJ, et al. Genetic studies of quantitative MCI and AD phenotypes in ADNI: progress, opportunities, and plans. Alzheimers Dement. 2015;11:792\u2013814. https:\/\/doi.org\/10.1016\/j.jalz.2015.05.009.","journal-title":"Alzheimers Dement"},{"key":"592_CR55","doi-asserted-by":"publisher","first-page":"fcab139","DOI":"10.1093\/braincomms\/fcab139","volume":"3","author":"K Nho","year":"2021","unstructured":"Nho K, et al. Serum metabolites associated with brain amyloid beta deposition, cognition and dementia progression. Brain Commun. 2021;3:fcab139. https:\/\/doi.org\/10.1093\/braincomms\/fcab139.","journal-title":"Brain Commun"},{"key":"592_CR56","doi-asserted-by":"publisher","first-page":"1470","DOI":"10.1016\/j.jalz.2018.01.010","volume":"14","author":"O Hansson","year":"2018","unstructured":"Hansson O, et al. CSF biomarkers of Alzheimer\u2019s disease concord with amyloid-\u03b2 PET and predict clinical progression: a study of fully automated immunoassays in BioFINDER and ADNI cohorts. Alzheimers Dement. 2018;14:1470\u201381. https:\/\/doi.org\/10.1016\/j.jalz.2018.01.010.","journal-title":"Alzheimers Dement"},{"key":"592_CR57","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1186\/s13195-021-00906-4","volume":"13","author":"JP Kim","year":"2021","unstructured":"Kim JP, et al. BMI1 is associated with CS8F amyloid-\u03b2 and rates of cognitive decline in Alzheimer\u2019s disease. Alzheimers Res Ther. 2021;13:164. https:\/\/doi.org\/10.1186\/s13195-021-00906-4.","journal-title":"Alzheimers Res Ther"},{"key":"592_CR58","doi-asserted-by":"publisher","first-page":"1202","DOI":"10.1038\/ejhg.2015.269","volume":"24","author":"J Fadista","year":"2016","unstructured":"Fadista J, Manning AK, Florez JC, Groop L. The (in) famous GWAS P-value threshold revisited and updated for low-frequency variants. Eur J Hum Genet. 2016;24:1202\u20135. https:\/\/doi.org\/10.1038\/ejhg.2015.269.","journal-title":"Eur J Hum Genet"},{"key":"592_CR59","doi-asserted-by":"publisher","first-page":"e1004383","DOI":"10.1371\/journal.pgen.1004383","volume":"10","author":"C Giambartolomei","year":"2014","unstructured":"Giambartolomei C, et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet. 2014;10:e1004383. https:\/\/doi.org\/10.1371\/journal.pgen.1004383.","journal-title":"PLoS Genet"},{"key":"592_CR60","doi-asserted-by":"publisher","first-page":"1273","DOI":"10.1111\/rssb.12388","volume":"82","author":"G Wang","year":"2020","unstructured":"Wang G, Sarkar A, Carbonetto P, Stephens M. A simple new approach to variable selection in regression, with application to genetic fine mapping. J R Stat Soc Ser B Stat Methodol. 2020;82:1273\u2013300. https:\/\/doi.org\/10.1111\/rssb.12388.","journal-title":"J R Stat Soc Ser B Stat Methodol"},{"key":"592_CR61","doi-asserted-by":"publisher","first-page":"e1009440","DOI":"10.1371\/journal.pgen.1009440","volume":"17","author":"C Wallace","year":"2021","unstructured":"Wallace C. A more accurate method for colocalisation analysis allowing for multiple causal variants. PLoS Genet. 2021;17:e1009440. https:\/\/doi.org\/10.1371\/journal.pgen.1009440.","journal-title":"PLoS Genet"},{"key":"592_CR62","doi-asserted-by":"publisher","unstructured":"Zhang T, Klein A, Sang J, Choi J, Brown KM. ezQTL: a web platform for interactive visualization and colocalization of quantitative trait loci and GWAS. Genom Proteom Bioinform. 2022. https:\/\/doi.org\/10.1016\/j.gpb.2022.05.004.","DOI":"10.1016\/j.gpb.2022.05.004"},{"key":"592_CR63","doi-asserted-by":"publisher","first-page":"764","DOI":"10.1038\/s41467-020-20885-8","volume":"12","author":"CN Foley","year":"2021","unstructured":"Foley CN, et al. A fast and efficient colocalization algorithm for identifying shared genetic risk factors across multiple traits. Nat Commun. 2021;12:764. https:\/\/doi.org\/10.1038\/s41467-020-20885-8.","journal-title":"Nat Commun"},{"key":"592_CR64","doi-asserted-by":"publisher","first-page":"1245","DOI":"10.1016\/j.ajhg.2016.10.003","volume":"99","author":"F Hormozdiari","year":"2016","unstructured":"Hormozdiari F, et al. Colocalization of GWAS and eQTL signals detects target genes. Am J Hum Genet. 2016;99:1245\u201360. https:\/\/doi.org\/10.1016\/j.ajhg.2016.10.003.","journal-title":"Am J Hum Genet"},{"key":"592_CR65","doi-asserted-by":"publisher","first-page":"e60","DOI":"10.1093\/nar\/gky175","volume":"46","author":"S Yoon","year":"2018","unstructured":"Yoon S, et al. Efficient pathway enrichment and network analysis of GWAS summary data using GSA-SNP2. Nucleic Acids Res. 2018;46:e60. https:\/\/doi.org\/10.1093\/nar\/gky175.","journal-title":"Nucleic Acids Res"},{"key":"592_CR66","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","volume":"102","author":"A Subramanian","year":"2005","unstructured":"Subramanian A, et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc Natl Acad Sci. 2005;102:15545\u201350. https:\/\/doi.org\/10.1073\/pnas.0506580102.","journal-title":"Proc Natl Acad Sci"},{"key":"592_CR67","doi-asserted-by":"publisher","first-page":"417","DOI":"10.1016\/j.cels.2015.12.004","volume":"1","author":"A Liberzon","year":"2015","unstructured":"Liberzon A, et al. The molecular signatures database (MSigDB) hallmark gene set collection. Cell Syst. 2015;1:417\u201325. https:\/\/doi.org\/10.1016\/j.cels.2015.12.004.","journal-title":"Cell Syst"},{"key":"592_CR68","doi-asserted-by":"publisher","first-page":"25","DOI":"10.1038\/75556","volume":"25","author":"M Ashburner","year":"2000","unstructured":"Ashburner M, et al. Gene ontology: tool for the unification of biology. Nat Genet. 2000;25:25\u20139. https:\/\/doi.org\/10.1038\/75556.","journal-title":"Nat Genet"},{"key":"592_CR69","doi-asserted-by":"publisher","first-page":"D330","DOI":"10.1093\/nar\/gky1055","volume":"47","author":"The Gene Ontology Consortium","year":"2018","unstructured":"The Gene Ontology Consortium. The gene ontology resource: 20 years and still GOing strong. Nucleic Acids Res. 2018;47:D330\u20138. https:\/\/doi.org\/10.1093\/nar\/gky1055.","journal-title":"Nucleic Acids Res"},{"key":"592_CR70","doi-asserted-by":"publisher","first-page":"e21800","DOI":"10.1371\/journal.pone.0021800","volume":"6","author":"F Supek","year":"2011","unstructured":"Supek F, Bo\u0161njak M, \u0160kunca N, \u0160muc T. REVIGO summarizes and visualizes long lists of gene ontology terms. PLoS One. 2011;6:e21800. https:\/\/doi.org\/10.1371\/journal.pone.0021800.","journal-title":"PLoS One"},{"key":"592_CR71","doi-asserted-by":"publisher","first-page":"332","DOI":"10.1038\/s41586-019-1195-2","volume":"570","author":"H Mathys","year":"2019","unstructured":"Mathys H, et al. Single-cell transcriptomic analysis of Alzheimer\u2019s disease. Nature. 2019;570:332\u20137. https:\/\/doi.org\/10.1038\/s41586-019-1195-2.","journal-title":"Nature"},{"key":"592_CR72","doi-asserted-by":"publisher","first-page":"D884","DOI":"10.1093\/nar\/gkaa942","volume":"49","author":"KL Howe","year":"2020","unstructured":"Howe KL, et al. Ensembl 2021. Nucleic Acids Res. 2020;49:D884\u201391. https:\/\/doi.org\/10.1093\/nar\/gkaa942.","journal-title":"Nucleic Acids Res"},{"key":"592_CR73","doi-asserted-by":"publisher","first-page":"256","DOI":"10.1016\/j.neuron.2013.02.026","volume":"78","author":"C Cruchaga","year":"2013","unstructured":"Cruchaga C, et al. GWAS of cerebrospinal fluid tau levels identifies risk variants for Alzheimer\u2019s disease. Neuron. 2013;78:256\u201368. https:\/\/doi.org\/10.1016\/j.neuron.2013.02.026.","journal-title":"Neuron"},{"key":"592_CR74","doi-asserted-by":"publisher","first-page":"3555","DOI":"10.1093\/bioinformatics\/btv402","volume":"31","author":"MJ Machiela","year":"2015","unstructured":"Machiela MJ, Chanock SJ. LDlink: a web-based application for exploring population-specific haplotype structure and linking correlated alleles of possible functional variants. Bioinformatics. 2015;31:3555\u20137. https:\/\/doi.org\/10.1093\/bioinformatics\/btv402.","journal-title":"Bioinformatics"},{"key":"592_CR75","doi-asserted-by":"publisher","first-page":"204","DOI":"10.1038\/nature24277","volume":"550","author":"F Aguet","year":"2017","unstructured":"Aguet F, et al. Genetic effects on gene expression across human tissues. Nature. 2017;550:204\u201313. https:\/\/doi.org\/10.1038\/nature24277.","journal-title":"Nature"},{"key":"592_CR76","doi-asserted-by":"publisher","first-page":"311","DOI":"10.1089\/bio.2015.0032","volume":"13","author":"F Aguet","year":"2015","unstructured":"GTEx Consortium., L. A, Aguet F, et al. A novel approach to high-quality postmortem tissue procurement: the GTEx project. Biopreserv Biobank. 2015;13:311\u20139. https:\/\/doi.org\/10.1089\/bio.2015.0032.","journal-title":"Biopreserv Biobank"},{"issue":"Suppl 1","key":"592_CR77","doi-asserted-by":"publisher","first-page":"S32","DOI":"10.1002\/mds.22798","volume":"25","author":"TM Dawson","year":"2010","unstructured":"Dawson TM, Dawson VL. The role of parkin in familial and sporadic Parkinson\u2019s disease. Mov Disord. 2010;25(Suppl 1):S32\u20139. https:\/\/doi.org\/10.1002\/mds.22798.","journal-title":"Mov Disord"},{"key":"592_CR78","doi-asserted-by":"publisher","first-page":"5","DOI":"10.1186\/s13195-018-0458-8","volume":"11","author":"A Nazarian","year":"2019","unstructured":"Nazarian A, Yashin AI, Kulminski AM. Genome-wide analysis of genetic predisposition to Alzheimer\u2019s disease and related sex disparities. Alzheimers Res Ther. 2019;11:5. https:\/\/doi.org\/10.1186\/s13195-018-0458-8.","journal-title":"Alzheimers Res Ther"},{"key":"592_CR79","doi-asserted-by":"publisher","first-page":"309","DOI":"10.1038\/s41380-018-0246-7","volume":"26","author":"Q Yan","year":"2021","unstructured":"Yan Q, et al. Genome-wide association study of brain amyloid deposition as measured by Pittsburgh compound-B (PiB)-PET imaging. Mol Psychiatry. 2021;26:309\u201321. https:\/\/doi.org\/10.1038\/s41380-018-0246-7.","journal-title":"Mol Psychiatry"},{"key":"592_CR80","doi-asserted-by":"publisher","first-page":"e0182448","DOI":"10.1371\/journal.pone.0182448","volume":"12","author":"TE Arpawong","year":"2017","unstructured":"Arpawong TE, et al. Genetic variants specific to aging-related verbal memory: insights from GWASs in a population-based cohort. PLoS One. 2017;12:e0182448. https:\/\/doi.org\/10.1371\/journal.pone.0182448.","journal-title":"PLoS One"},{"issue":"247","key":"592_CR81","doi-asserted-by":"publisher","first-page":"e241","DOI":"10.1016\/j.neurobiolaging.2017.05.007","volume":"57","author":"J Li","year":"2017","unstructured":"Li J, et al. Genome-wide association and interaction studies of CSF T-tau\/A\u03b2(42) ratio in ADNI cohort. Neurobiol Aging. 2017;57(247):e241\u2013247.e248. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2017.05.007.","journal-title":"Neurobiol Aging"},{"key":"592_CR82","doi-asserted-by":"publisher","first-page":"647389","DOI":"10.1155\/2015\/647389","volume":"2015","author":"J Li","year":"2015","unstructured":"Li J, et al. Genetic interactions explain variance in cingulate amyloid burden: an AV-45 PET genome-wide association and interaction study in the ADNI cohort. Biomed Res Int. 2015;2015:647389. https:\/\/doi.org\/10.1155\/2015\/647389.","journal-title":"Biomed Res Int"},{"key":"592_CR83","doi-asserted-by":"publisher","first-page":"410","DOI":"10.3389\/fgene.2018.00410","volume":"9","author":"C Liu","year":"2018","unstructured":"Liu C, et al. Genome-wide association and mechanistic studies indicate that immune response contributes to Alzheimer\u2019s disease development. Front Genet. 2018;9:410. https:\/\/doi.org\/10.3389\/fgene.2018.00410.","journal-title":"Front Genet"},{"key":"592_CR84","doi-asserted-by":"publisher","first-page":"351","DOI":"10.1038\/mp.2013.19","volume":"19","author":"VK Ramanan","year":"2014","unstructured":"Ramanan VK, et al. APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Mol Psychiatry. 2014;19:351\u20137. https:\/\/doi.org\/10.1038\/mp.2013.19.","journal-title":"Mol Psychiatry"},{"key":"592_CR85","doi-asserted-by":"publisher","first-page":"812","DOI":"10.1001\/jamaneurol.2016.1114","volume":"73","author":"I Fogh","year":"2016","unstructured":"Fogh I, et al. Association of a Locus in the CAMTA1 gene with survival in patients with sporadic amyotrophic lateral sclerosis. JAMA Neurol. 2016;73:812\u201320. https:\/\/doi.org\/10.1001\/jamaneurol.2016.1114.","journal-title":"JAMA Neurol"},{"key":"592_CR86","doi-asserted-by":"publisher","first-page":"D1005","DOI":"10.1093\/nar\/gky1120","volume":"47","author":"A Buniello","year":"2019","unstructured":"Buniello A, et al. The NHGRI-EBI GWAS catalog of published genome-wide association studies, targeted arrays and summary statistics 2019. Nucleic Acids Res. 2019;47:D1005\u2013d1012. https:\/\/doi.org\/10.1093\/nar\/gky1120.","journal-title":"Nucleic Acids Res"},{"key":"592_CR87","doi-asserted-by":"publisher","first-page":"224","DOI":"10.1111\/mbe.12198","volume":"13","author":"G Donati","year":"2019","unstructured":"Donati G, Dumontheil I, Meaburn EL. Genome-wide association study of latent cognitive measures in adolescence: genetic overlap with intelligence and education. Mind Brain Educ. 2019;13:224\u201333. https:\/\/doi.org\/10.1111\/mbe.12198.","journal-title":"Mind Brain Educ"},{"key":"592_CR88","doi-asserted-by":"publisher","first-page":"1711.e1717","DOI":"10.1016\/j.neurobiolaging.2012.12.008","volume":"34","author":"F Martinelli-Boneschi","year":"2013","unstructured":"Martinelli-Boneschi F, et al. Pharmacogenomics in Alzheimer\u2019s disease: a genome-wide association study of response to cholinesterase inhibitors. Neurobiol Aging. 2013;34:1711.e1717\u20133. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2012.12.008.","journal-title":"Neurobiol Aging"},{"key":"592_CR89","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1016\/j.neurobiolaging.2020.04.025","volume":"93","author":"H Wang","year":"2020","unstructured":"Wang H, et al. Genome-wide interaction analysis of pathological hallmarks in Alzheimer\u2019s disease. Neurobiol Aging. 2020;93:61\u20138. https:\/\/doi.org\/10.1016\/j.neurobiolaging.2020.04.025.","journal-title":"Neurobiol Aging"},{"key":"592_CR90","doi-asserted-by":"publisher","first-page":"431","DOI":"10.1038\/s41588-019-0344-8","volume":"51","author":"J Grove","year":"2019","unstructured":"Grove J, et al. Identification of common genetic risk variants for autism spectrum disorder. Nat Genet. 2019;51:431\u201344. https:\/\/doi.org\/10.1038\/s41588-019-0344-8.","journal-title":"Nat Genet"},{"key":"592_CR91","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1038\/s41398-020-00953-9","volume":"10","author":"N Matoba","year":"2020","unstructured":"Matoba N, et al. Common genetic risk variants identified in the SPARK cohort support DDHD2 as a candidate risk gene for autism. Transl Psychiatry. 2020;10:265. https:\/\/doi.org\/10.1038\/s41398-020-00953-9.","journal-title":"Transl Psychiatry"},{"key":"592_CR92","doi-asserted-by":"publisher","first-page":"898","DOI":"10.1016\/j.jaac.2010.02.014","volume":"49","author":"E Mick","year":"2010","unstructured":"Mick E, et al. Family-based genome-wide association scan of attention-deficit\/hyperactivity disorder. J Am Acad Child Adolesc Psychiatry. 2010;49:898\u2013905.e893. https:\/\/doi.org\/10.1016\/j.jaac.2010.02.014.","journal-title":"J Am Acad Child Adolesc Psychiatry"},{"key":"592_CR93","doi-asserted-by":"publisher","first-page":"1521","DOI":"10.1038\/mp.2017.20","volume":"23","author":"LB Chibnik","year":"2018","unstructured":"Chibnik LB, et al. Susceptibility to neurofibrillary tangles: role of the PTPRD locus and limited pleiotropy with other neuropathologies. Mol Psychiatry. 2018;23:1521\u20139. https:\/\/doi.org\/10.1038\/mp.2017.20.","journal-title":"Mol Psychiatry"},{"key":"592_CR94","doi-asserted-by":"publisher","first-page":"297","DOI":"10.3389\/fnagi.2019.00297","volume":"11","author":"C Liu","year":"2019","unstructured":"Liu C, Yu J. Genome-wide association studies for cerebrospinal fluid soluble TREM2 in Alzheimer\u2019s disease. Front Aging Neurosci. 2019;11:297. https:\/\/doi.org\/10.3389\/fnagi.2019.00297.","journal-title":"Front Aging Neurosci"},{"key":"592_CR95","doi-asserted-by":"publisher","first-page":"1254","DOI":"10.1176\/appi.ajp.2010.09091335","volume":"167","author":"J Huang","year":"2010","unstructured":"Huang J, et al. Cross-disorder genomewide analysis of schizophrenia, bipolar disorder, and depression. Am J Psychiatry. 2010;167:1254\u201363. https:\/\/doi.org\/10.1176\/appi.ajp.2010.09091335.","journal-title":"Am J Psychiatry"},{"key":"592_CR96","doi-asserted-by":"publisher","first-page":"649","DOI":"10.1002\/ajmg.b.32349","volume":"168","author":"FS Goes","year":"2015","unstructured":"Goes FS, et al. Genome-wide association study of schizophrenia in Ashkenazi Jews. Am J Med Genet B Neuropsychiatr Genet. 2015;168:649\u201359. https:\/\/doi.org\/10.1002\/ajmg.b.32349.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"592_CR97","doi-asserted-by":"publisher","first-page":"793","DOI":"10.1038\/s41588-019-0397-8","volume":"51","author":"EA Stahl","year":"2019","unstructured":"Stahl EA, et al. Genome-wide association study identifies 30 loci associated with bipolar disorder. Nat Genet. 2019;51:793\u2013803. https:\/\/doi.org\/10.1038\/s41588-019-0397-8.","journal-title":"Nat Genet"},{"key":"592_CR98","doi-asserted-by":"publisher","first-page":"1056","DOI":"10.1038\/ng.209","volume":"40","author":"MA Ferreira","year":"2008","unstructured":"Ferreira MA, et al. Collaborative genome-wide association analysis supports a role for ANK3 and CACNA1C in bipolar disorder. Nat Genet. 2008;40:1056\u20138. https:\/\/doi.org\/10.1038\/ng.209.","journal-title":"Nat Genet"},{"key":"592_CR99","doi-asserted-by":"publisher","first-page":"1608","DOI":"10.1038\/mp.2015.218","volume":"21","author":"C Herold","year":"2016","unstructured":"Herold C, et al. Family-based association analyses of imputed genotypes reveal genome-wide significant association of Alzheimer\u2019s disease with OSBPL6, PTPRG, and PDCL3. Mol Psychiatry. 2016;21:1608\u201312. https:\/\/doi.org\/10.1038\/mp.2015.218.","journal-title":"Mol Psychiatry"},{"key":"592_CR100","doi-asserted-by":"publisher","first-page":"e1004606","DOI":"10.1371\/journal.pgen.1004606","volume":"10","author":"GW Beecham","year":"2014","unstructured":"Beecham GW, et al. Genome-wide association meta-analysis of neuropathologic features of Alzheimer\u2019s disease and related dementias. PLoS Genet. 2014;10:e1004606. https:\/\/doi.org\/10.1371\/journal.pgen.1004606.","journal-title":"PLoS Genet"},{"key":"592_CR101","doi-asserted-by":"publisher","first-page":"230","DOI":"10.1038\/s41398-019-0564-9","volume":"9","author":"N Alliey-Rodriguez","year":"2019","unstructured":"Alliey-Rodriguez N, et al. NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. Transl Psychiatry. 2019;9:230. https:\/\/doi.org\/10.1038\/s41398-019-0564-9.","journal-title":"Transl Psychiatry"},{"key":"592_CR102","doi-asserted-by":"publisher","first-page":"40","DOI":"10.1016\/j.ajhg.2016.11.007","volume":"100","author":"AV Ahola-Olli","year":"2017","unstructured":"Ahola-Olli AV, et al. Genome-wide association study identifies 27 loci influencing concentrations of circulating cytokines and growth factors. Am J Hum Genet. 2017;100:40\u201350. https:\/\/doi.org\/10.1016\/j.ajhg.2016.11.007.","journal-title":"Am J Hum Genet"},{"key":"592_CR103","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1097\/NEN.0b013e31825018f7","volume":"71","author":"PT Nelson","year":"2012","unstructured":"Nelson PT, et al. Correlation of Alzheimer disease neuropathologic changes with cognitive status: a review of the literature. J Neuropathol Exp Neurol. 2012;71:362\u201381. https:\/\/doi.org\/10.1097\/NEN.0b013e31825018f7.","journal-title":"J Neuropathol Exp Neurol"},{"key":"592_CR104","doi-asserted-by":"publisher","first-page":"1304","DOI":"10.1016\/j.neuron.2022.03.004","volume":"110","author":"YA Martens","year":"2022","unstructured":"Martens YA, et al. ApoE cascade hypothesis in the pathogenesis of Alzheimer\u2019s disease and related dementias. Neuron. 2022;110:1304\u201317. https:\/\/doi.org\/10.1016\/j.neuron.2022.03.004.","journal-title":"Neuron"},{"key":"592_CR105","doi-asserted-by":"publisher","first-page":"487","DOI":"10.3233\/JAD-170187","volume":"61","author":"CC Tan","year":"2018","unstructured":"Tan CC, Zhang XY, Tan L, Yu JT. Tauopathies: mechanisms and therapeutic strategies. J Alzheimers Dis. 2018;61:487\u2013508. https:\/\/doi.org\/10.3233\/JAD-170187.","journal-title":"J Alzheimers Dis"},{"key":"592_CR106","doi-asserted-by":"publisher","first-page":"5481","DOI":"10.1038\/s41380-021-01249-0","volume":"26","author":"H Hampel","year":"2021","unstructured":"Hampel H, et al. The amyloid-beta pathway in Alzheimer\u2019s disease. Mol Psychiatry. 2021;26:5481\u2013503. https:\/\/doi.org\/10.1038\/s41380-021-01249-0.","journal-title":"Mol Psychiatry"},{"key":"592_CR107","doi-asserted-by":"publisher","first-page":"839","DOI":"10.1007\/s00401-017-1685-y","volume":"133","author":"Y Deming","year":"2017","unstructured":"Deming Y, et al. Genome-wide association study identifies four novel loci associated with Alzheimer\u2019s endophenotypes and disease modifiers. Acta Neuropathol. 2017;133:839\u201356. https:\/\/doi.org\/10.1007\/s00401-017-1685-y.","journal-title":"Acta Neuropathol"},{"key":"592_CR108","doi-asserted-by":"publisher","first-page":"523","DOI":"10.1038\/nature24016","volume":"549","author":"Y Shi","year":"2017","unstructured":"Shi Y, et al. ApoE4 markedly exacerbates tau-mediated neurodegeneration in a mouse model of tauopathy. Nature. 2017;549:523\u20137. https:\/\/doi.org\/10.1038\/nature24016.","journal-title":"Nature"},{"key":"592_CR109","doi-asserted-by":"publisher","first-page":"e1913909","DOI":"10.1001\/jamanetworkopen.2019.13909","volume":"2","author":"VK Ramanan","year":"2019","unstructured":"Ramanan VK, et al. Association of Apolipoprotein E \u025b4, educational level, and sex with tau deposition and tau-mediated metabolic dysfunction in older adults. JAMA Netw Open. 2019;2:e1913909. https:\/\/doi.org\/10.1001\/jamanetworkopen.2019.13909.","journal-title":"JAMA Netw Open"},{"key":"592_CR110","doi-asserted-by":"publisher","first-page":"2212","DOI":"10.1007\/s00259-021-05192-8","volume":"48","author":"G Salvad\u00f3","year":"2021","unstructured":"Salvad\u00f3 G, et al. Differential associations of APOE-\u03b52 and APOE-\u03b54 alleles with PET-measured amyloid-\u03b2 and tau deposition in older individuals without dementia. Eur J Nucl Med Mol Imaging. 2021;48:2212\u201324. https:\/\/doi.org\/10.1007\/s00259-021-05192-8.","journal-title":"Eur J Nucl Med Mol Imaging"},{"key":"592_CR111","doi-asserted-by":"publisher","first-page":"470","DOI":"10.1001\/jamaneurol.2019.4421","volume":"77","author":"J Therriault","year":"2020","unstructured":"Therriault J, et al. Association of Apolipoprotein E \u03b54 with medial temporal tau independent of amyloid-\u03b2. JAMA Neurol. 2020;77:470\u20139. https:\/\/doi.org\/10.1001\/jamaneurol.2019.4421.","journal-title":"JAMA Neurol"},{"key":"592_CR112","doi-asserted-by":"publisher","first-page":"5977","DOI":"10.1038\/s41380-020-0688-6","volume":"26","author":"J Therriault","year":"2021","unstructured":"Therriault J, et al. APOE\u03b54 potentiates the relationship between amyloid-\u03b2 and tau pathologies. Mol Psychiatry. 2021;26:5977\u201388. https:\/\/doi.org\/10.1038\/s41380-020-0688-6.","journal-title":"Mol Psychiatry"},{"key":"592_CR113","doi-asserted-by":"publisher","first-page":"2729","DOI":"10.1096\/fj.201700359","volume":"31","author":"RA Nixon","year":"2017","unstructured":"Nixon RA. Amyloid precursor protein and endosomal-lysosomal dysfunction in Alzheimer\u2019s disease: inseparable partners in a multifactorial disease. FASEB J. 2017;31:2729\u201343. https:\/\/doi.org\/10.1096\/fj.201700359.","journal-title":"FASEB J"},{"key":"592_CR114","doi-asserted-by":"publisher","first-page":"289","DOI":"10.1002\/ajmg.b.32787","volume":"183","author":"J Patak","year":"2020","unstructured":"Patak J, Faraone SV, Zhang-James Y. Sodium hydrogen exchanger 9 NHE9 (SLC9A9) and its emerging roles in neuropsychiatric comorbidity. Am J Med Genet B Neuropsychiatr Genet. 2020;183:289\u2013305. https:\/\/doi.org\/10.1002\/ajmg.b.32787.","journal-title":"Am J Med Genet B Neuropsychiatr Genet"},{"key":"592_CR115","doi-asserted-by":"publisher","first-page":"73","DOI":"10.1097\/YPG.0b013e3283351209","volume":"20","author":"CA Markunas","year":"2010","unstructured":"Markunas CA, et al. Genetic variants in SLC9A9 are associated with measures of attention-deficit\/hyperactivity disorder symptoms in families. Psychiatr Genet. 2010;20:73\u201381. https:\/\/doi.org\/10.1097\/YPG.0b013e3283351209.","journal-title":"Psychiatr Genet"},{"key":"592_CR116","doi-asserted-by":"publisher","first-page":"6820","DOI":"10.1007\/s12035-016-0208-5","volume":"54","author":"G Liu","year":"2017","unstructured":"Liu G, et al. Genetic variants and multiple sclerosis risk gene SLC9A9 expression in distinct human brain regions. Mol Neurobiol. 2017;54:6820\u20136. https:\/\/doi.org\/10.1007\/s12035-016-0208-5.","journal-title":"Mol Neurobiol"},{"key":"592_CR117","doi-asserted-by":"publisher","first-page":"3942","DOI":"10.1038\/s41467-020-17405-z","volume":"11","author":"ND Beckmann","year":"2020","unstructured":"Beckmann ND, et al. Multiscale causal networks identify VGF as a key regulator of Alzheimer\u2019s disease. Nat Commun. 2020;11:3942. https:\/\/doi.org\/10.1038\/s41467-020-17405-z.","journal-title":"Nat Commun"},{"key":"592_CR118","doi-asserted-by":"publisher","first-page":"R32","DOI":"10.1186\/gb-2007-8-3-r32","volume":"8","author":"EL Heinzen","year":"2007","unstructured":"Heinzen EL, et al. Alternative ion channel splicing in mesial temporal lobe epilepsy and Alzheimer\u2019s disease. Genome Biol. 2007;8:R32. https:\/\/doi.org\/10.1186\/gb-2007-8-3-r32.","journal-title":"Genome Biol"},{"key":"592_CR119","doi-asserted-by":"publisher","first-page":"107860","DOI":"10.1016\/j.celrep.2020.107860","volume":"32","author":"G Seo","year":"2020","unstructured":"Seo G, et al. MAP 4K Interactome reveals STRN4 as a key STRIPAK complex component in hippo pathway regulation. Cell Rep. 2020;32:107860. https:\/\/doi.org\/10.1016\/j.celrep.2020.107860.","journal-title":"Cell Rep"},{"key":"592_CR120","doi-asserted-by":"publisher","first-page":"1703","DOI":"10.1016\/j.chembiol.2019.10.005","volume":"26","author":"PH Bos","year":"2019","unstructured":"Bos PH, et al. Development of MAP 4 kinase inhibitors as motor neuron-protecting agents. Cell Chem Biol. 2019;26:1703\u20131715.e1737. https:\/\/doi.org\/10.1016\/j.chembiol.2019.10.005.","journal-title":"Cell Chem Biol"},{"key":"592_CR121","doi-asserted-by":"publisher","first-page":"1143","DOI":"10.1016\/j.celrep.2019.01.019","volume":"26","author":"C Wu","year":"2019","unstructured":"Wu C, Watts ME, Rubin LL. MAP 4K4 activation mediates motor neuron degeneration in amyotrophic lateral sclerosis. Cell Rep. 2019;26:1143\u20131156.e1145. https:\/\/doi.org\/10.1016\/j.celrep.2019.01.019.","journal-title":"Cell Rep"},{"key":"592_CR122","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1038\/s41467-020-14353-6","volume":"11","author":"H Tanaka","year":"2020","unstructured":"Tanaka H, et al. YAP-dependent necrosis occurs in early stages of Alzheimer\u2019s disease and regulates mouse model pathology. Nat Commun. 2020;11:507. https:\/\/doi.org\/10.1038\/s41467-020-14353-6.","journal-title":"Nat Commun"},{"key":"592_CR123","doi-asserted-by":"publisher","first-page":"61","DOI":"10.1186\/s12911-017-0454-0","volume":"17","author":"D Kim","year":"2017","unstructured":"Kim D, et al. Knowledge-driven binning approach for rare variant association analysis: application to neuroimaging biomarkers in Alzheimer\u2019s disease. BMC Med Inform Decis Mak. 2017;17:61. https:\/\/doi.org\/10.1186\/s12911-017-0454-0.","journal-title":"BMC Med Inform Decis Mak"},{"key":"592_CR124","doi-asserted-by":"publisher","first-page":"976","DOI":"10.1016\/j.cell.2020.06.038","volume":"182","author":"W-T Chen","year":"2020","unstructured":"Chen W-T, et al. Spatial Transcriptomics and in situ sequencing to study Alzheimer\u2019s disease. Cell. 2020;182:976\u2013991.e919. https:\/\/doi.org\/10.1016\/j.cell.2020.06.038.","journal-title":"Cell"},{"key":"592_CR125","doi-asserted-by":"publisher","first-page":"381","DOI":"10.1186\/s12883-021-02407-1","volume":"21","author":"X-L Wang","year":"2021","unstructured":"Wang X-L, Li L. Cell type-specific potential pathogenic genes and functional pathways in Alzheimer\u2019s disease. BMC Neurol. 2021;21:381. https:\/\/doi.org\/10.1186\/s12883-021-02407-1.","journal-title":"BMC Neurol"},{"key":"592_CR126","doi-asserted-by":"publisher","first-page":"8893553","DOI":"10.1155\/2021\/8893553","volume":"2021","author":"Q Jing","year":"2021","unstructured":"Jing Q, et al. A comprehensive analysis identified hub genes and associated drugs in Alzheimer\u2019s disease. Biomed Res Int. 2021;2021:8893553. https:\/\/doi.org\/10.1155\/2021\/8893553.","journal-title":"Biomed Res Int"},{"key":"592_CR127","doi-asserted-by":"publisher","first-page":"100439","DOI":"10.1016\/j.imu.2020.100439","volume":"21","author":"UN Chowdhury","year":"2020","unstructured":"Chowdhury UN, Islam MB, Ahmad S, Moni MA. Systems biology and bioinformatics approach to identify gene signatures, pathways and therapeutic targets of Alzheimer\u2019s disease. Inform Med Unlocked. 2020;21:100439. https:\/\/doi.org\/10.1016\/j.imu.2020.100439.","journal-title":"Inform Med Unlocked"},{"key":"592_CR128","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.mcn.2006.09.004","volume":"33","author":"R Milner","year":"2006","unstructured":"Milner R, Campbell IL. Increased expression of the \u03b24 and \u03b15 integrin subunits in cerebral blood vessels of transgenic mice chronically producing the pro-inflammatory cytokines IL-6 or IFN-\u03b1 in the central nervous system. Mol Cell Neurosci. 2006;33:429\u201340. https:\/\/doi.org\/10.1016\/j.mcn.2006.09.004.","journal-title":"Mol Cell Neurosci"},{"key":"592_CR129","doi-asserted-by":"publisher","first-page":"2662","DOI":"10.1007\/s11064-021-03256-7","volume":"46","author":"M Verkerke","year":"2021","unstructured":"Verkerke M, Hol EM, Middeldorp J. Physiological and pathological ageing of astrocytes in the human brain. Neurochem Res. 2021;46:2662\u201375. https:\/\/doi.org\/10.1007\/s11064-021-03256-7.","journal-title":"Neurochem Res"},{"key":"592_CR130","doi-asserted-by":"publisher","first-page":"181","DOI":"10.1016\/j.schres.2018.03.001","volume":"199","author":"NL O'Brien","year":"2018","unstructured":"O'Brien NL, et al. Rare variant analysis in multiply affected families, association studies and functional analysis suggest a role for the ITG\u03924 gene in schizophrenia and bipolar disorder. Schizophr Res. 2018;199:181\u20138. https:\/\/doi.org\/10.1016\/j.schres.2018.03.001.","journal-title":"Schizophr Res"},{"key":"592_CR131","doi-asserted-by":"publisher","first-page":"1088","DOI":"10.1093\/molbev\/mst023","volume":"30","author":"GB Kamm","year":"2013","unstructured":"Kamm GB, Pisciottano F, Kliger R, Franchini LF. The developmental brain gene NPAS3 contains the largest number of accelerated regulatory sequences in the human genome. Mol Biol Evol. 2013;30:1088\u2013102. https:\/\/doi.org\/10.1093\/molbev\/mst023.","journal-title":"Mol Biol Evol"},{"key":"592_CR132","doi-asserted-by":"publisher","first-page":"183","DOI":"10.1038\/mp.2014.188","volume":"20","author":"G Davies","year":"2015","unstructured":"Davies G, et al. Genetic contributions to variation in general cognitive function: a meta-analysis of genome-wide association studies in the CHARGE consortium (N=53\u2009949). Mol Psychiatry. 2015;20:183\u201392. https:\/\/doi.org\/10.1038\/mp.2014.188.","journal-title":"Mol Psychiatry"},{"key":"592_CR133","doi-asserted-by":"publisher","first-page":"336","DOI":"10.1038\/mp.2016.244","volume":"22","author":"JW Trampush","year":"2017","unstructured":"Trampush JW, et al. GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium. Mol Psychiatry. 2017;22:336\u201345. https:\/\/doi.org\/10.1038\/mp.2016.244.","journal-title":"Mol Psychiatry"},{"key":"592_CR134","doi-asserted-by":"publisher","first-page":"396","DOI":"10.1093\/schbul\/sbr177","volume":"39","author":"J Wong","year":"2013","unstructured":"Wong J, et al. Expression of NPAS3 in the human cortex and evidence of its posttranscriptional regulation by miR-17 during development, with implications for schizophrenia. Schizophr Bull. 2013;39:396\u2013406. https:\/\/doi.org\/10.1093\/schbul\/sbr177.","journal-title":"Schizophr Bull"},{"key":"592_CR135","doi-asserted-by":"publisher","first-page":"143","DOI":"10.1016\/j.schres.2010.04.002","volume":"120","author":"G Macintyre","year":"2010","unstructured":"Macintyre G, et al. Association of NPAS3 exonic variation with schizophrenia. Schizophr Res. 2010;120:143\u20139. https:\/\/doi.org\/10.1016\/j.schres.2010.04.002.","journal-title":"Schizophr Res"},{"key":"592_CR136","doi-asserted-by":"publisher","first-page":"133","DOI":"10.1159\/000447358","volume":"2","author":"LG Nucifora","year":"2016","unstructured":"Nucifora LG, et al. A mutation in NPAS3 that segregates with schizophrenia in a small family leads to protein aggregation. Complex Psychiatry. 2016;2:133\u201344. https:\/\/doi.org\/10.1159\/000447358.","journal-title":"Complex Psychiatry"},{"key":"592_CR137","doi-asserted-by":"publisher","first-page":"267","DOI":"10.1038\/mp.2011.73","volume":"17","author":"L Sha","year":"2012","unstructured":"Sha L, et al. Transcriptional regulation of neurodevelopmental and metabolic pathways by NPAS3. Mol Psychiatry. 2012;17:267\u201379. https:\/\/doi.org\/10.1038\/mp.2011.73.","journal-title":"Mol Psychiatry"},{"key":"592_CR138","doi-asserted-by":"publisher","first-page":"14","DOI":"10.1186\/s12867-018-0117-4","volume":"19","author":"LM Luoma","year":"2018","unstructured":"Luoma LM, Berry FB. Molecular analysis of NPAS3 functional domains and variants. BMC Mol Biol. 2018;19:14. https:\/\/doi.org\/10.1186\/s12867-018-0117-4.","journal-title":"BMC Mol Biol"},{"key":"592_CR139","doi-asserted-by":"publisher","unstructured":"Yang D, et al. NPAS3 regulates transcription and expression of VGF: implications for neurogenesis and psychiatric disorders. Front Mol Neurosci. 2016;9. https:\/\/doi.org\/10.3389\/fnmol.2016.00109.","DOI":"10.3389\/fnmol.2016.00109"},{"key":"592_CR140","doi-asserted-by":"publisher","first-page":"1134","DOI":"10.1002\/alz.12106","volume":"16","author":"R Sherva","year":"2020","unstructured":"Sherva R, et al. Genome-wide association study of rate of cognitive decline in Alzheimer\u2019s disease patients identifies novel genes and pathways. Alzheimers Dement. 2020;16:1134\u201345. https:\/\/doi.org\/10.1002\/alz.12106.","journal-title":"Alzheimers Dement"},{"key":"592_CR141","doi-asserted-by":"publisher","first-page":"105225","DOI":"10.1016\/j.nbd.2020.105225","volume":"149","author":"A Noori","year":"2021","unstructured":"Noori A, Mezlini AM, Hyman BT, Serrano-Pozo A, Das S. Systematic review and meta-analysis of human transcriptomics reveals neuroinflammation, deficient energy metabolism, and proteostasis failure across neurodegeneration. Neurobiol Dis. 2021;149:105225. https:\/\/doi.org\/10.1016\/j.nbd.2020.105225.","journal-title":"Neurobiol Dis"}],"container-title":["Molecular Neurodegeneration"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13024-022-00592-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1186\/s13024-022-00592-2\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1186\/s13024-022-00592-2.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,1,10]],"date-time":"2023-01-10T10:53:35Z","timestamp":1673348015000},"score":1,"resource":{"primary":{"URL":"https:\/\/molecularneurodegeneration.biomedcentral.com\/articles\/10.1186\/s13024-022-00592-2"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,1,7]]},"references-count":141,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2023,12]]}},"alternative-id":["592"],"URL":"https:\/\/doi.org\/10.1186\/s13024-022-00592-2","relation":{"has-preprint":[{"id-type":"doi","id":"10.1101\/2022.05.31.493731","asserted-by":"object"}]},"ISSN":["1750-1326"],"issn-type":[{"value":"1750-1326","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,1,7]]},"assertion":[{"value":"19 July 2022","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"19 December 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"7 January 2023","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was approved by the appropriate Mayo Clinic Institutional Review Board.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"Not Applicable.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"None to report.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"2"}}