{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T10:42:42Z","timestamp":1790073762430,"version":"4.0.1"},"reference-count":72,"publisher":"Elsevier BV","issue":"3","license":[{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,8,1]],"date-time":"2020-08-01T00:00:00Z","timestamp":1596240000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2021,8,5]],"date-time":"2021-08-05T00:00:00Z","timestamp":1628121600000},"content-version":"vor","delay-in-days":369,"URL":"http:\/\/www.elsevier.com\/open-access\/userlicense\/1.0\/"}],"funder":[{"DOI":"10.13039\/100000957","name":"Alzheimer's Association","doi-asserted-by":"publisher","award":["AACF-17-505359"],"award-info":[{"award-number":["AACF-17-505359"]}],"id":[{"id":"10.13039\/100000957","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100004337","name":"Roche","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004337","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100005614","name":"Biogen","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100005614","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01AG046152"],"award-info":[{"award-number":["U01AG046152"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG042210"],"award-info":[{"award-number":["R01AG042210"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG057911"],"award-info":[{"award-number":["R01AG057911"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG036836"],"award-info":[{"award-number":["R01AG036836"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["U01AG046139"],"award-info":[{"award-number":["U01AG046139"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["K23AG062750"],"award-info":[{"award-number":["K23AG062750"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG15819"],"award-info":[{"award-number":["R01AG15819"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["P30AG10161"],"award-info":[{"award-number":["P30AG10161"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["R01AG17917"],"award-info":[{"award-number":["R01AG17917"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/100000002","name":"National Institutes of Health","doi-asserted-by":"publisher","award":["RF1AG051504"],"award-info":[{"award-number":["RF1AG051504"]}],"id":[{"id":"10.13039\/100000002","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["cell.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuron"],"published-print":{"date-parts":[[2020,8]]},"DOI":"10.1016\/j.neuron.2020.05.010","type":"journal-article","created":{"date-parts":[[2020,6,10]],"date-time":"2020-06-10T10:41:16Z","timestamp":1591785676000},"page":"496-508.e6","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":45,"title":["Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology"],"prefix":"10.1016","volume":"107","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8318-0443","authenticated-orcid":false,"given":"Hyun-Sik","family":"Yang","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Charles C.","family":"White","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hans-Ulrich","family":"Klein","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lei","family":"Yu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christopher","family":"Gaiteri","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yiyi","family":"Ma","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Felsky","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Mostafavi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vladislav A.","family":"Petyuk","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reisa A.","family":"Sperling","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nil\u00fcfer","family":"Ertekin-Taner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julie A.","family":"Schneider","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David A.","family":"Bennett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip L.","family":"De Jager","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.neuron.2020.05.010_bib1","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1038\/nrg3891","article-title":"The role of regulatory variation in complex traits and disease","volume":"16","author":"Albert","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib2","doi-asserted-by":"crossref","first-page":"160089","DOI":"10.1038\/sdata.2016.89","article-title":"Human whole genome genotype and transcriptome data for Alzheimer\u2019s and other neurodegenerative diseases","volume":"3","author":"Allen","year":"2016","journal-title":"Sci. Data"},{"key":"10.1016\/j.neuron.2020.05.010_bib3","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1016\/j.jalz.2017.09.012","article-title":"Conserved brain myelination networks are altered in Alzheimer\u2019s and other neurodegenerative diseases","volume":"14","author":"Allen","year":"2018","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neuron.2020.05.010_bib4","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1007\/s00401-018-1900-5","article-title":"Divergent brain gene expression patterns associate with distinct cell-specific tau neuropathology traits in progressive supranuclear palsy","volume":"136","author":"Allen","year":"2018","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib5","doi-asserted-by":"crossref","first-page":"367","DOI":"10.1016\/j.jalz.2018.02.001","article-title":"2018 Alzheimer\u2019s disease facts and figures","volume":"14","year":"2018","journal-title":"Alzheimers Dement."},{"key":"10.1016\/j.neuron.2020.05.010_bib6","doi-asserted-by":"crossref","first-page":"77","DOI":"10.1111\/bpa.12365","article-title":"The relationship of cerebral vessel pathology to brain microinfarcts","volume":"27","author":"Arvanitakis","year":"2017","journal-title":"Brain Pathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib7","doi-asserted-by":"crossref","first-page":"916","DOI":"10.1038\/nature05016","article-title":"Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17","volume":"442","author":"Baker","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2020.05.010_bib22","first-page":"879","article-title":"Size-constrained weighted set cover","author":"Golab","year":"2015","journal-title":"2015 IEEE 31st International Conference on Data Engineering, Seoul"},{"key":"10.1016\/j.neuron.2020.05.010_bib8","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1038\/nature24277","article-title":"Genetic effects on gene expression across human tissues","volume":"550","author":"GTEx Consortium","year":"2017","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2020.05.010_bib9","doi-asserted-by":"crossref","first-page":"628","DOI":"10.2174\/156720512801322573","article-title":"Overview and findings from the religious orders study","volume":"9","author":"Bennett","year":"2012","journal-title":"Curr. Alzheimer Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib10","doi-asserted-by":"crossref","first-page":"646","DOI":"10.2174\/156720512801322663","article-title":"Overview and findings from the rush Memory and Aging Project","volume":"9","author":"Bennett","year":"2012","journal-title":"Curr. Alzheimer Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib11","doi-asserted-by":"crossref","first-page":"617","DOI":"10.1016\/j.bcp.2014.01.037","article-title":"Building a pipeline to discover and validate novel therapeutic targets and lead compounds for Alzheimer\u2019s disease","volume":"88","author":"Bennett","year":"2014","journal-title":"Biochem. Pharmacol."},{"issue":"s1","key":"10.1016\/j.neuron.2020.05.010_bib12","doi-asserted-by":"crossref","first-page":"S161","DOI":"10.3233\/JAD-179939","article-title":"Religious orders study and rush Memory and Aging Project","volume":"64","author":"Bennett","year":"2018","journal-title":"J.\u00a0Alzheimers Dis."},{"key":"10.1016\/j.neuron.2020.05.010_bib13","doi-asserted-by":"crossref","first-page":"1930","DOI":"10.1212\/WNL.0000000000002175","article-title":"Cerebral amyloid angiopathy and cognitive outcomes in community-based older persons","volume":"85","author":"Boyle","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2020.05.010_bib14","doi-asserted-by":"crossref","first-page":"581","DOI":"10.1016\/j.ajhg.2017.02.004","article-title":"Large-scale trans-eQTLs affect hundreds of transcripts and mediate patterns of transcriptional co-regulation","volume":"100","author":"Brynedal","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib15","doi-asserted-by":"crossref","first-page":"11213","DOI":"10.1523\/JNEUROSCI.0521-12.2012","article-title":"TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132\/212 cluster and affects progranulin pathways","volume":"32","author":"Chen-Plotkin","year":"2012","journal-title":"J.\u00a0Neurosci."},{"key":"10.1016\/j.neuron.2020.05.010_bib16","doi-asserted-by":"crossref","first-page":"920","DOI":"10.1038\/nature05017","article-title":"Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21","volume":"442","author":"Cruts","year":"2006","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2020.05.010_bib17","doi-asserted-by":"crossref","first-page":"180142","DOI":"10.1038\/sdata.2018.142","article-title":"A multi-omic atlas of the human frontal cortex for aging and Alzheimer\u2019s disease research","volume":"5","author":"De Jager","year":"2018","journal-title":"Sci. Data"},{"key":"10.1016\/j.neuron.2020.05.010_bib18","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1093\/bioinformatics\/bts635","article-title":"STAR: ultrafast universal RNA-seq aligner","volume":"29","author":"Dobin","year":"2013","journal-title":"Bioinformatics"},{"key":"10.1016\/j.neuron.2020.05.010_bib19","doi-asserted-by":"crossref","first-page":"16361","DOI":"10.1038\/srep16361","article-title":"Identifying robust communities and multi-community nodes by combining top-down and bottom-up approaches to clustering","volume":"5","author":"Gaiteri","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.neuron.2020.05.010_bib20","doi-asserted-by":"crossref","first-page":"643","DOI":"10.1016\/j.ajhg.2017.09.004","article-title":"A dementia-associated risk variant near TMEM106B alters chromatin architecture and gene expression","volume":"101","author":"Gallagher","year":"2017","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib21","doi-asserted-by":"crossref","first-page":"eaat8127","DOI":"10.1126\/science.aat8127","article-title":"Transcriptome-wide isoform-level dysregulation in ASD, schizophrenia, and bipolar disorder","volume":"362","author":"Gandal","year":"2018","journal-title":"Science"},{"key":"10.1016\/j.neuron.2020.05.010_bib23","doi-asserted-by":"crossref","first-page":"372","DOI":"10.1186\/s12859-015-0808-5","article-title":"Practical impacts of genomic data \u201ccleaning\u201d on biological discovery using surrogate variable analysis","volume":"16","author":"Jaffe","year":"2015","journal-title":"BMC Bioinformatics"},{"key":"10.1016\/j.neuron.2020.05.010_bib24","doi-asserted-by":"crossref","first-page":"171","DOI":"10.1007\/s00401-017-1717-7","article-title":"Impact of multiple pathologies on the threshold for clinically overt dementia","volume":"134","author":"Kapasi","year":"2017","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib25","doi-asserted-by":"crossref","first-page":"1514","DOI":"10.1038\/s41588-018-0222-9","article-title":"Genetics of blood lipids among \u223c300,000 multi-ethnic participants of the Million Veteran Program","volume":"50","author":"Klarin","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib26","doi-asserted-by":"crossref","first-page":"281","DOI":"10.1016\/j.neuron.2017.06.026","article-title":"Loss of TMEM106B ameliorates lysosomal and frontotemporal dementia-related phenotypes in progranulin-deficient mice","volume":"95","author":"Klein","year":"2017","journal-title":"Neuron"},{"key":"10.1016\/j.neuron.2020.05.010_bib27","doi-asserted-by":"crossref","first-page":"R25","DOI":"10.1186\/gb-2009-10-3-r25","article-title":"Ultrafast and memory-efficient alignment of short DNA sequences to the human genome","volume":"10","author":"Langmead","year":"2009","journal-title":"Genome Biol."},{"key":"10.1016\/j.neuron.2020.05.010_bib28","doi-asserted-by":"crossref","first-page":"1724","DOI":"10.1371\/journal.pgen.0030161","article-title":"Capturing heterogeneity in gene expression studies by surrogate variable analysis","volume":"3","author":"Leek","year":"2007","journal-title":"PLoS Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib29","series-title":"sva: Surrogate Variable Analysis. R package version 3340","author":"Leek","year":"2019"},{"key":"10.1016\/j.neuron.2020.05.010_bib30","doi-asserted-by":"crossref","first-page":"151","DOI":"10.1038\/s41588-017-0004-9","article-title":"Annotation-free quantification of RNA splicing using LeafCutter","volume":"50","author":"Li","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib31","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1007\/s00401-019-02066-0","article-title":"The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion","volume":"139","author":"Li","year":"2020","journal-title":"Acta Neuropathol."},{"issue":"W1","key":"10.1016\/j.neuron.2020.05.010_bib32","doi-asserted-by":"crossref","first-page":"W199","DOI":"10.1093\/nar\/gkz401","article-title":"WebGestalt 2019: gene set analysis toolkit with revamped UIs and APIs","volume":"47","author":"Liao","year":"2019","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib33","doi-asserted-by":"crossref","first-page":"650","DOI":"10.1126\/science.aab0983","article-title":"TDP-43 repression of nonconserved cryptic exons is compromised in ALS-FTD","volume":"349","author":"Ling","year":"2015","journal-title":"Science"},{"key":"10.1016\/j.neuron.2020.05.010_bib34","article-title":"Meta-analysis of the human brain transcriptome identifies heterogeneity across human AD coexpression modules robust to sample collection and methodological approach","author":"Logsdon","year":"2019","journal-title":"bioRxiv"},{"key":"10.1016\/j.neuron.2020.05.010_bib35","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1109\/LLS.2015.2465870","article-title":"SNAPR: a bioinformatics pipeline for efficient and accurate RNA-seq alignment and analysis","volume":"1","author":"Magis","year":"2015","journal-title":"IEEE Life Sci. Lett."},{"key":"10.1016\/j.neuron.2020.05.010_bib36","doi-asserted-by":"crossref","first-page":"811","DOI":"10.1038\/s41593-018-0154-9","article-title":"A molecular network of the aging human brain provides insights into the pathology and cognitive decline of Alzheimer\u2019s disease","volume":"21","author":"Mostafavi","year":"2018","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2020.05.010_bib37","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1186\/s40478-018-0531-3","article-title":"TDP-43 pathology in anterior temporal pole cortex in aging and Alzheimer\u2019s disease","volume":"6","author":"Nag","year":"2018","journal-title":"Acta Neuropathol. Commun."},{"key":"10.1016\/j.neuron.2020.05.010_bib38","doi-asserted-by":"crossref","first-page":"1503","DOI":"10.1093\/brain\/awz099","article-title":"Limbic-predominant age-related TDP-43 encephalopathy (LATE): consensus working group report","volume":"142","author":"Nelson","year":"2019","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2020.05.010_bib39","doi-asserted-by":"crossref","first-page":"1418","DOI":"10.1038\/nn.4632","article-title":"An xQTL map integrates the genetic architecture of the human brain\u2019s transcriptome and epigenome","volume":"20","author":"Ng","year":"2017","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2020.05.010_bib40","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/s00401-016-1610-9","article-title":"What we know about TMEM106B in neurodegeneration","volume":"132","author":"Nicholson","year":"2016","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib41","doi-asserted-by":"crossref","first-page":"781","DOI":"10.1111\/jnc.12329","article-title":"TMEM106B p.T185S regulates TMEM106B protein levels: implications for frontotemporal dementia","volume":"126","author":"Nicholson","year":"2013","journal-title":"J.\u00a0Neurochem."},{"key":"10.1016\/j.neuron.2020.05.010_bib42","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1038\/nrg3934","article-title":"Systems biology and gene networks in neurodevelopmental and neurodegenerative disorders","volume":"16","author":"Parikshak","year":"2015","journal-title":"Nat. Rev. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib43","doi-asserted-by":"crossref","first-page":"94","DOI":"10.1186\/s13059-019-1700-9","article-title":"Addressing confounding artifacts in reconstruction of gene co-expression networks","volume":"20","author":"Parsana","year":"2019","journal-title":"Genome Biol."},{"key":"10.1016\/j.neuron.2020.05.010_bib44","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1186\/s13024-017-0191-y","article-title":"Dissecting the role of non-coding RNAs in the accumulation of amyloid and tau neuropathologies in Alzheimer\u2019s disease","volume":"12","author":"Patrick","year":"2017","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.neuron.2020.05.010_bib45","article-title":"Deconvolving the contributions of cell-type heterogeneity on cortical gene expression","author":"Patrick","year":"2019","journal-title":"bioRxiv"},{"key":"10.1016\/j.neuron.2020.05.010_bib46","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/s00401-018-1861-8","article-title":"The lysosomal function of progranulin, a guardian against neurodegeneration","volume":"136","author":"Paushter","year":"2018","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib47","doi-asserted-by":"crossref","first-page":"495","DOI":"10.1093\/dnares\/dsv028","article-title":"Identification of minimal eukaryotic introns through GeneBase, a user-friendly tool for parsing the NCBI Gene databank","volume":"22","author":"Piovesan","year":"2015","journal-title":"DNA Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib48","doi-asserted-by":"crossref","first-page":"459","DOI":"10.1038\/nn.2779","article-title":"Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43","volume":"14","author":"Polymenidou","year":"2011","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2020.05.010_bib49","doi-asserted-by":"crossref","first-page":"2336","DOI":"10.1093\/bioinformatics\/btq419","article-title":"LocusZoom: regional visualization of genome-wide association scan results","volume":"26","author":"Pruim","year":"2010","journal-title":"Bioinformatics"},{"key":"10.1016\/j.neuron.2020.05.010_bib50","doi-asserted-by":"crossref","first-page":"1584","DOI":"10.1038\/s41588-018-0238-1","article-title":"Integrative transcriptome analyses of the aging brain implicate altered splicing in Alzheimer\u2019s disease susceptibility","volume":"50","author":"Raj","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib51","doi-asserted-by":"crossref","first-page":"35","DOI":"10.1186\/s13024-018-0268-2","article-title":"TMEM106B haplotypes have distinct gene expression patterns in aged brain","volume":"13","author":"Ren","year":"2018","journal-title":"Mol. Neurodegener."},{"key":"10.1016\/j.neuron.2020.05.010_bib52","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1016\/j.cels.2017.02.009","article-title":"Differential aging analysis in human cerebral cortex identifies variants in TMEM106B and GRN that regulate aging phenotypes","volume":"4","author":"Rhinn","year":"2017","journal-title":"Cell Syst."},{"key":"10.1016\/j.neuron.2020.05.010_bib53","doi-asserted-by":"crossref","first-page":"1860","DOI":"10.12688\/f1000research.17145.1","article-title":"False positives in trans-eQTL and co-expression analyses arising from RNA-sequencing alignment errors","volume":"7","author":"Saha","year":"2018","journal-title":"F1000Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib54","doi-asserted-by":"crossref","first-page":"3005","DOI":"10.1093\/brain\/aws234","article-title":"Cognitive impairment, decline and fluctuations in older community-dwelling subjects with Lewy bodies","volume":"135","author":"Schneider","year":"2012","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2020.05.010_bib55","doi-asserted-by":"crossref","first-page":"283","DOI":"10.1038\/nrm3565","article-title":"Signals from the lysosome: a control centre for cellular clearance and energy metabolism","volume":"14","author":"Settembre","year":"2013","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.neuron.2020.05.010_bib56","doi-asserted-by":"crossref","first-page":"3105","DOI":"10.1093\/brain\/awx314","article-title":"A recurrent de novo mutation in TMEM106B causes hypomyelinating leukodystrophy","volume":"140","author":"Simons","year":"2017","journal-title":"Brain"},{"key":"10.1016\/j.neuron.2020.05.010_bib57","doi-asserted-by":"crossref","first-page":"1102","DOI":"10.1016\/j.ajhg.2012.04.021","article-title":"Strikingly different clinicopathological phenotypes determined by progranulin-mutation dosage","volume":"90","author":"Smith","year":"2012","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib58","doi-asserted-by":"crossref","first-page":"e1000770","DOI":"10.1371\/journal.pcbi.1000770","article-title":"A Bayesian framework to account for complex non-genetic factors in gene expression levels greatly increases power in eQTL studies","volume":"6","author":"Stegle","year":"2010","journal-title":"PLoS Comput. Biol."},{"key":"10.1016\/j.neuron.2020.05.010_bib59","doi-asserted-by":"crossref","first-page":"15545","DOI":"10.1073\/pnas.0506580102","article-title":"Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles","volume":"102","author":"Subramanian","year":"2005","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.neuron.2020.05.010_bib60","doi-asserted-by":"crossref","first-page":"923","DOI":"10.1007\/s00401-017-1701-2","article-title":"Cryptic exon incorporation occurs in Alzheimer\u2019s brain lacking TDP-43 inclusion but exhibiting nuclear clearance of TDP-43","volume":"133","author":"Sun","year":"2017","journal-title":"Acta Neuropathol."},{"key":"10.1016\/j.neuron.2020.05.010_bib61","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1038\/nature11632","article-title":"An integrated map of genetic variation from 1,092 human genomes","volume":"491","author":"The 1000 Genomes Project Consortium","year":"2012","journal-title":"Nature"},{"key":"10.1016\/j.neuron.2020.05.010_bib62","article-title":"mediation: R package for causal mediation analysis","volume":"59","author":"Tingley","year":"2014","journal-title":"J.\u00a0Stat. Softw."},{"key":"10.1016\/j.neuron.2020.05.010_bib63","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1038\/nn.2778","article-title":"Characterizing the RNA targets and position-dependent splicing regulation by TDP-43","volume":"14","author":"Tollervey","year":"2011","journal-title":"Nat. Neurosci."},{"key":"10.1016\/j.neuron.2020.05.010_bib64","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/ng.536","article-title":"Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions","volume":"42","author":"Van Deerlin","year":"2010","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib65","doi-asserted-by":"crossref","first-page":"D930","DOI":"10.1093\/nar\/gkr917","article-title":"HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants","volume":"40","author":"Ward","year":"2012","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.neuron.2020.05.010_bib66","doi-asserted-by":"crossref","first-page":"1347","DOI":"10.1001\/jamaneurol.2018.3139","article-title":"Association of Apolipoprotein E \u03b54 With Transactive Response DNA-Binding Protein 43","volume":"75","author":"Wennberg","year":"2018","journal-title":"JAMA Neurol."},{"key":"10.1016\/j.neuron.2020.05.010_bib67","doi-asserted-by":"crossref","first-page":"1238","DOI":"10.1038\/ng.2756","article-title":"Systematic identification of trans eQTLs as putative drivers of known disease associations","volume":"45","author":"Westra","year":"2013","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib68","doi-asserted-by":"crossref","first-page":"e1002287","DOI":"10.1371\/journal.pmed.1002287","article-title":"Identification of genes associated with dissociation of cognitive performance and neuropathological burden: Multistep analysis of genetic, epigenetic, and transcriptional data","volume":"14","author":"White","year":"2017","journal-title":"PLoS Med."},{"key":"10.1016\/j.neuron.2020.05.010_bib69","doi-asserted-by":"crossref","first-page":"668","DOI":"10.1038\/s41588-018-0090-3","article-title":"Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression","volume":"50","author":"Wray","year":"2018","journal-title":"Nat. Genet."},{"key":"10.1016\/j.neuron.2020.05.010_bib70","doi-asserted-by":"crossref","first-page":"773","DOI":"10.1016\/S1474-4422(18)30251-5","article-title":"Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE \u03b54 haplotype status: a community-based cohort study","volume":"17","author":"Yang","year":"2018","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.neuron.2020.05.010_bib71","doi-asserted-by":"crossref","first-page":"927","DOI":"10.1212\/WNL.0000000000001313","article-title":"The TMEM106B locus and TDP-43 pathology in older persons without FTLD","volume":"84","author":"Yu","year":"2015","journal-title":"Neurology"},{"key":"10.1016\/j.neuron.2020.05.010_bib72","doi-asserted-by":"crossref","first-page":"78","DOI":"10.1002\/ana.25266","article-title":"Targeted brain proteomics uncover multiple pathways to Alzheimer\u2019s dementia","volume":"84","author":"Yu","year":"2018","journal-title":"Ann. Neurol."}],"container-title":["Neuron"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627320303561?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0896627320303561?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,5,13]],"date-time":"2026-05-13T00:46:17Z","timestamp":1778633177000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0896627320303561"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,8]]},"references-count":72,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2020,8]]}},"alternative-id":["S0896627320303561"],"URL":"https:\/\/doi.org\/10.1016\/j.neuron.2020.05.010","relation":{},"ISSN":["0896-6273"],"issn-type":[{"value":"0896-6273","type":"print"}],"subject":[],"published":{"date-parts":[[2020,8]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology","name":"articletitle","label":"Article Title"},{"value":"Neuron","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.neuron.2020.05.010","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Elsevier Inc.","name":"copyright","label":"Copyright"}]}}