2023

Vermunt L, Sutphen C, Dicks E, de Leeuw DM, Allegri R, Berman SB, Cash DM, Chhatwal JP, Cruchaga C, Day G, Ewers M, Farlow M, Fox NC, Ghetti B, Graff-Radford N, Hassenstab J, Jucker M, Karch CM, Kuhle J, Laske C, Levin J, Masters CL, McDade E, Mori H, Morris JC, Perrin RJ, Preische O, Schofield PR, Suárez-Calvet M, Xiong C, Scheltens P, Teunissen CE, Visser PJ, Bateman RJ, Benzinger TLS, Fagan AM, Gordon BA, Tijms BM. Axonal damage and astrocytosis are biological correlates of grey matter network integrity loss: a cohort study in autosomal dominant Alzheimer disease. medRxiv. 2023 Mar 22;. doi: 10.1101/2023.03.21.23287468. PubMed PMID: 37016671; PubMed Central PMCID: PMC10071836.

Luckett PH, Chen C, Gordon BA, Wisch J, Berman SB, Chhatwal JP, Cruchaga C, Fagan AM, Farlow MR, Fox NC, Jucker M, Levin J, Masters CL, Mori H, Noble JM, Salloway S, Schofield PR, Brickman AM, Brooks WS, Cash DM, Fulham MJ, Ghetti B, Jack CR Jr, Vöglein J, Klunk WE, Koeppe R, Su Y, Weiner M, Wang Q, Marcus D, Koudelis D, Joseph-Mathurin N, Cash L, Hornbeck R, Xiong C, Perrin RJ, Karch CM, Hassenstab J, McDade E, Morris JC, Benzinger TLS, Bateman RJ, Ances BM; Dominantly Inherited Alzheimer Network (DIAN). Biomarker clustering in autosomal dominant Alzheimer's disease. Alzheimers Dement. 2023 Jan;19(1):274-284. doi: 10.1002/alz.12661. Epub 2022 Apr 1. PMID: 35362200; PMCID: PMC9525451.

Wheelock MD, Strain JF, Mansfield P, Tu JC, Tanenbaum A, Preische O, Chhatwal JP, Cash DM, Cruchaga C, Fagan AM, Fox NC, Graff-Radford NR, Hassenstab J, Jack CR, Karch CM, Levin J, McDade EM, Perrin RJ, Schofield PR, Xiong C, Morris JC, Bateman RJ, Jucker M, Benzinger TLS, Ances BM, Eggebrecht AT, Gordon BA; Dominantly Inherited Alzheimer Network. Brain network decoupling with increased serum neurofilament and reduced cognitive function in Alzheimer's disease. Brain. 2023 Jul 3;146(7):2928-2943. doi: 10.1093/brain/awac498. PMID: 36625756; PMCID: PMC10316768.

Johnson ECB, Bian S, Haque RU, Carter EK, Watson CM, Gordon BA, Ping L, Duong DM, Epstein MP, McDade E, Barthélemy NR, Karch CM, Xiong C, Cruchaga C, Perrin RJ, Wingo AP, Wingo TS, Chhatwal JP, Day GS, Noble JM, Berman SB, Martins R, Graff-Radford NR, Schofield PR, Ikeuchi T, Mori H, Levin J, Farlow M, Lah JJ, Haass C, Jucker M, Morris JC, Benzinger TLS, Roberts BR, Bateman RJ, Fagan AM, Seyfried NT, Levey AI; Dominantly Inherited Alzheimer Network. Cerebrospinal fluid proteomics define the natural history of autosomal dominant Alzheimer's disease. Nat Med. 2023 Aug;29(8):1979-1988. doi: 10.1038/s41591-023-02476-4. Epub 2023 Aug 7. PMID: 37550416; PMCID: PMC10427428.

Horie K, Li Y, Barthélemy NR, Gordon B, Hassenstab J, Benzinger TLS, Fagan AM, Morris JC, Karch CM, Xiong C, Allegri R, Mendez PC, Ikeuchi T, Kasuga K, Noble J, Farlow M, Chhatwal J, Day G, Schofield PR, Masters CL, Levin J, Jucker M, Lee JH, Roh JH, Sato C, Sachdev P, Koyama A, Reyderman L, Bateman RJ, McDade E; Dominantly Inherited Alzheimer Network. Change in Cerebrospinal Fluid Tau Microtubule Binding Region Detects Symptom Onset, Cognitive Decline, Tangles, and Atrophy in Dominantly Inherited Alzheimer's Disease. Ann Neurol. 2023 Jun;93(6):1158-1172. doi: 10.1002/ana.26620. Epub 2023 Mar 16. PMID: 36843330; PMCID: PMC10238659.

Minaya MA, Mahali S, Iyer AK, Eteleeb AM, Martinez R, Huang G, Budde J, Temple S, Nana AL, Seeley WW, Spina S, Grinberg LT, Harari O, Karch CM. Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling. Front Mol Biosci. 2023 Feb 9;10:1051494. doi: 10.3389/fmolb.2023.1051494. PMID: 36845551; PMCID: PMC9948093.

Filipello F, You SF, Mirfakhar FS, Mahali S, Bollman B, Acquarone M, Korvatska O, Marsh JA, Sivaraman A, Martinez R, Cantoni C, De Feo L, Ghezzi L, Minaya MA, Renganathan A, Cashikar AG, Satoh JI, Beatty W, Iyer AK, Cella M, Raskind WH, Piccio L, Karch CM. Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation. Acta Neuropathol. 2023 Jun;145(6):749-772. doi: 10.1007/s00401-023-02568-y. Epub 2023 Apr 28. PMID: 37115208; PMCID: PMC10175346.

Sun Z, Kwon JS, Ren Y, Chen S, Cates K, Lu X, Walker CK, Karahan H, Sviben S, Fitzpatrick JAJ, Valdez C, Houlden H, Karch CM, Bateman RJ, Sato C, Mennerick SJ, Diamond MI, Kim J, Tanzi RE, Holtzman DM, Yoo AS. Endogenous recapitulation of Alzheimer's disease neuropathology through human 3D direct neuronal reprogramming. bioRxiv. 2023 May 25;. doi: 10.1101/2023.05.24.542155. PubMed PMID: 37292658; PubMed Central PMCID: PMC10245934.

Szabo L, Cummins N, Paganetti P, Odermatt A, Papassotiropoulos A, Karch C, Götz J, Eckert A, Grimm A. ER-mitochondria contacts and cholesterol metabolism are disrupted by disease-associated tau protein. EMBO Rep. 2023 Aug 3;24(8):e57499. doi: 10.15252/embr.202357499. Epub 2023 Jul 4. PMID: 37401859; PMCID: PMC10398652.

Shirzadi Z, Schultz SA, Yau WW, Joseph-Mathurin N, Fitzpatrick CD, Levin R, Kantarci K, Preboske GM, Jack CR Jr, Farlow MR, Hassenstab J, Jucker M, Morris JC, Xiong C, Karch CM, Levey AI, Gordon BA, Schofield PR, Salloway SP, Perrin RJ, McDade E, Levin J, Cruchaga C, Allegri RF, Fox NC, Goate A, Day GS, Koeppe R, Chui HC, Berman S, Mori H, Sanchez-Valle R, Lee JH, Rosa-Neto P, Ruthirakuhan M, Wu CY, Swardfager W, Benzinger TLS, Sohrabi HR, Martins RN, Bateman RJ, Johnson KA, Sperling RA, Greenberg SM, Schultz AP, Chhatwal JP. Etiology of White Matter Hyperintensities in Autosomal Dominant and Sporadic Alzheimer Disease. JAMA Neurol. 2023 Dec 1;80(12):1353-1363. doi: 10.1001/jamaneurol.2023.3618. PubMed PMID: 37843849; PubMed Central PMCID: PMC10580156.

Gabriel E, Albanna W, Pasquini G, Ramani A, Josipovic N, Mariappan A, Riparbelli MG, Callaini G, Karch CM, Goureau O, Papantonis A, Busskamp V, Schneider T, Gopalakrishnan J. Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia. Nat Protoc. 2023 Jun;18(6):1893-1929. doi: 10.1038/s41596-023-00814-x. Epub 2023 May 17. PMID: 37198320.

Liu L, Lauro BM, He A, Lee H, Bhattarai S, Wolfe MS, Bennett DA, Karch CM, Young-Pearse T; Dominantly Inherited Alzheimer Network (DIAN); Selkoe DJ. Identification of the Aβ37/42 peptide ratio in CSF as an improved Aβ biomarker for Alzheimer's disease. Alzheimers Dement. 2023 Jan;19(1):79-96. doi: 10.1002/alz.12646. Epub 2022 Mar 12. PMID: 35278341; PMCID: PMC9464800.

Bertucci T, Bowles KR, Lotz S, Qi L, Stevens K, Goderie SK, Borden S, Oja LM, Lane K, Lotz R, Lotz H, Chowdhury R, Joy S, Arduini BL, Butler DC, Miller M, Baron H, Sandhof CA, Silva MC, Haggarty SJ, Karch CM, Geschwind DH, Goate AM, Temple S. Improved Protocol for Reproducible Human Cortical Organoids Reveals Early Alterations in Metabolism with MAPT Mutations. bioRxiv. 2023 Jul 11;. doi: 10.1101/2023.07.11.548571. PubMed PMID: 37503195; PubMed Central PMCID: PMC10369860.

Grizzanti J, Moritz WR, Pait MC, Stanley M, Kaye SD, Carroll CM, Constantino NJ, Deitelzweig LJ, Snipes JA, Kellar D, Caesar EE, Pettit-Mee RJ, Day SM, Sens JP, Nicol NI, Dhillon J, Remedi MS, Kiraly DD, Karch CM, Nichols CG, Holtzman DM, Macauley SL. KATP channels are necessary for glucose-dependent increases in amyloid-β and Alzheimer's disease-related pathology. JCI Insight. 2023 May 2;8(10):e162454. doi: 10.1172/jci.insight.162454. PMID: 37129980; PMCID: PMC10386887.

Ali M, Archer DB, Gorijala P, Western D, Timsina J, Fernández MV, Wang TC, Satizabal CL, Yang Q, Beiser AS, Wang R, Chen G, Gordon B, Benzinger TLS, Xiong C, Morris JC, Bateman RJ, Karch CM, McDade E, Goate A, Seshadri S, Mayeux RP, Sperling RA, Buckley RF, Johnson KA, Won HH, Jung SH, Kim HR, Seo SW, Kim HJ, Mormino E, Laws SM, Fan KH, Kamboh MI, Vemuri P, Ramanan VK, Yang HS, Wenzel A, Rajula HSR, Mishra A, Dufouil C, Debette S, Lopez OL, DeKosky ST, Tao F, Nagle MW; Knight Alzheimer Disease Research Center (Knight ADRC); Dominantly Inherited Alzheimer Network (DIAN); Alzheimer’s Disease Neuroimaging Initiative (ADNI); ADNI-DOD, A4 Study Team; Australian Imaging Biomarkers, Lifestyle (AIBL) Study; Hohman TJ, Sung YJ, Dumitrescu L, Cruchaga C. Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease. Acta Neuropathol Commun. 2023 Apr 26;11(1):68. doi: 10.1186/s40478-023-01563-4. PMID: 37101235; PMCID: PMC10134547.

Schultz SA, Shirzadi Z, Schultz AP, Liu L, Fitzpatrick CD, McDade E, Barthelemy NR, Renton A, Esposito B, Joseph-Mathurin N, Cruchaga C, Chen CD, Goate A, Allegri RF, Benzinger TLS, Berman S, Chui HC, Fagan AM, Farlow MR, Fox NC, Gordon BA, Day GS, Graff-Radford NR, Hassenstab JJ, Hanseeuw BJ, Hofmann A, Jack CR Jr, Jucker M, Karch CM, Koeppe RA, Lee JH, Levey AI, Levin J, Martins RN, Mori H, Morris JC, Noble J, Perrin RJ, Rosa-Neto P, Salloway SP, Sanchez-Valle R, Schofield PR, Xiong C, Johnson KA, Bateman RJ, Sperling RA, Chhatwal JP; Dominantly Inherited Alzheimer Network Investigators. Location of pathogenic variants in PSEN1 impacts progression of cognitive, clinical, and neurodegenerative measures in autosomal-dominant Alzheimer's disease. Aging Cell. 2023 Aug;22(8):e13871. doi: 10.1111/acel.13871. Epub 2023 Jun 8. PMID: 37291760; PMCID: PMC10410059.

Bhagat, R., Minaya, M.A., Renganathan, A. et al. Long non-coding RNA SNHG8 drives stress granule formation in tauopathies. Mol Psychiatry (2023). https://doi.org/10.1038/s41380-023-02237-2

Novotny BC, Fernandez MV, Wang C, Budde JP, Bergmann K, Eteleeb AM, Bradley J, Webster C, Ebl C, Norton J, Gentsch J, Dube U, Wang F, Morris JC, Bateman RJ, Perrin RJ, McDade E, Xiong C, Chhatwal J; Dominantly Inherited Alzheimer Network (DIAN) Study Group; Alzheimer's Disease Neuroimaging Initiative; Alzheimer's Disease Metabolomics Consortium (ADMC); Goate A, Farlow M, Schofield P, Chui H, Karch CM, Cruchaga C, Benitez BA, Harari O. Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer's disease brains. Alzheimers Dement. 2023 May;19(5):1785-1799. doi: 10.1002/alz.12800. Epub 2022 Oct 17. PMID: 36251323; PMCID: PMC10106526.

You SF, Brase L, Filipello F, Iyer AK, Del-Aguila J, He J, D'Oliveira Albanus R, Budde J, Norton J, Gentsch J, Dräger NM, Sattler SM, Kampmann M, Piccio L, Morris JC, Perrin RJ, McDade E, Paul SM, Cashikar AG, Benitez BA, Harari O, Karch CM. MS4A4A modifies the risk of Alzheimer disease by regulating lipid metabolism and immune response in a unique microglia state. medRxiv. 2023 Feb 8;. doi: 10.1101/2023.02.06.23285545. PubMed PMID: 36798226; PubMed Central PMCID: PMC9934804.

Bhagat R, Minaya MA, Renganathan A, Mehra M, Marsh J, Martinez R, Eteleeb AM, Nana AL, Spina S, Seeley WW, Grinberg LT, Karch CM. Mutant tau and stress lead to downregulation of long noncoding RNA, SNHG8. Mol Psychiatry. 2023 Nov;28(11):4489. doi: 10.1038/s41380-023-02328-0. PubMed PMID: 38443679; PubMed Central PMCID: PMC11197879.

Vöglein J, Franzmeier N, Morris JC, Dieterich M, McDade E, Simons M, Preische O, Hofmann A, Hassenstab J, Benzinger TL, Fagan A, Noble JM, Berman SB, Graff-Radford NR, Ghetti B, Farlow MR, Chhatwal JP, Salloway S, Xiong C, Karch CM, Cairns N, Perrin RJ, Day G, Martins R, Sanchez-Valle R, Mori H, Shimada H, Ikeuchi T, Suzuki K, Schofield PR, Masters CL, Goate A, Buckles V, Fox NC, Chrem P, Allegri R, Ringman JM, Yakushev I, Laske C, Jucker M, Höglinger G, Bateman RJ, Danek A, Levin J; Dominantly Inherited Alzheimer Network. Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease. Alzheimers Dement. 2023 Feb;19(2):632-645. doi: 10.1002/alz.12684. Epub 2022 May 24. PMID: 35609137; PMCID: PMC9684350.

Chatterjee P, Vermunt L, Gordon BA, Pedrini S, Boonkamp L, Armstrong NJ, Xiong C, Singh AK, Li Y, Sohrabi HR, Taddei K, Molloy M, Benzinger TLS, Morris JC, Karch C, Berman S, Chhatwal J, Cruchaga C, Graff-Radford NR, Day GS, Farlow M, Fox N, Goate A, Hassenstab J, Lee JH, Levin J, McDade E, Mori H, Perrin R, Sanchez-Valle R, Schofield PR, Levey A, Jucker M, Masters CL, Fagan AM, Bateman RJ, Martins RN, Teunissen C; Dominantly Inherited Alzheimer Network. Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer's disease: Associations with Aβ-PET, neurodegeneration, and cognition. Alzheimers Dement. 2023 Jul;19(7):2790-2804. doi: 10.1002/alz.12879. Epub 2022 Dec 28. PMID: 36576155; PMCID: PMC10300233.

McKay NS, Gordon BA, Hornbeck RC, Dincer A, Flores S, Keefe SJ, Joseph-Mathurin N, Jack CR, Koeppe R, Millar PR, Ances BM, Chen CD, Daniels A, Hobbs DA, Jackson K, Koudelis D, Massoumzadeh P, McCullough A, Nickels ML, Rahmani F, Swisher L, Wang Q, Allegri RF, Berman SB, Brickman AM, Brooks WS, Cash DM, Chhatwal JP, Day GS, Farlow MR, la Fougère C, Fox NC, Fulham M, Ghetti B, Graff-Radford N, Ikeuchi T, Klunk W, Lee JH, Levin J, Martins R, Masters CL, McConathy J, Mori H, Noble JM, Reischl G, Rowe C, Salloway S, Sanchez-Valle R, Schofield PR, Shimada H, Shoji M, Su Y, Suzuki K, Vöglein J, Yakushev I, Cruchaga C, Hassenstab J, Karch C, McDade E, Perrin RJ, Xiong C, Morris JC, Bateman RJ, Benzinger TLS; Dominantly Inherited Alzheimer Network. Positron emission tomography and magnetic resonance imaging methods and datasets within the Dominantly Inherited Alzheimer Network (DIAN). Nat Neurosci. 2023 Aug;26(8):1449-1460. doi: 10.1038/s41593-023-01359-8. Epub 2023 Jul 10. PMID: 37429916; PMCID: PMC10400428.

Sung YJ, Yang C, Norton J, Johnson M, Fagan A, Bateman RJ, Perrin RJ, Morris JC, Farlow MR, Chhatwal JP, Schofield PR, Chui H, Wang F, Novotny B, Eteleeb A, Karch C, Schindler SE, Rhinn H, Johnson ECB, Oh HS, Rutledge JE, Dammer EB, Seyfried NT, Wyss-Coray T, Harari O, Cruchaga C. Proteomics of brain, CSF, and plasma identifies molecular signatures for distinguishing sporadic and genetic Alzheimer's disease. Sci Transl Med. 2023 Jul 5;15(703):eabq5923. doi: 10.1126/scitranslmed.abq5923. Epub 2023 Jul 5. PMID: 37406134.

Brase L, You SF, D'Oliveira Albanus R, Del-Aguila JL, Dai Y, Novotny BC, Soriano-Tarraga C, Dykstra T, Fernandez MV, Budde JP, Bergmann K, Morris JC, Bateman RJ, Perrin RJ, McDade E, Xiong C, Goate AM, Farlow M; Dominantly Inherited Alzheimer Network (DIAN); Sutherland GT, Kipnis J, Karch CM, Benitez BA, Harari O. Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers. Nat Commun. 2023 Apr 21;14(1):2314. doi: 10.1038/s41467-023-37437-5. PMID: 37085492; PMCID: PMC10121712.

ct Iyer AK, Schoch KM, Verbeck A, Galasso G, Chen H, Smith S, Oldenborg A, Miller TM, Karch CM, Bonni A. Targeted ASO-mediated Atp1a2 knockdown in astrocytes reduces SOD1 aggregation and accelerates disease onset in mutant SOD1 mice. PLoS One. 2023;18(11):e0294731. doi: 10.1371/journal.pone.0294731. eCollection 2023. PubMed PMID: 38015828; PubMed Central PMCID: PMC10683999.