Generation of iPSC-derived human forebrain organoids assembling bilateral eye primordia
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.
KATP channels are necessary for glucose-dependent increases in amyloid-β and Alzheimer’s disease-related pathology
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.
Defects in lysosomal function and lipid metabolism in human microglia harboring a TREM2 loss of function mutation
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.
Large multi-ethnic genetic analyses of amyloid imaging identify new genes for Alzheimer disease
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.
Single-nucleus RNA-sequencing of autosomal dominant Alzheimer disease and risk variant carriers
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.
Long non-coding RNA SNHG8 drives stress granule formation in tauopathies
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
Conserved gene signatures shared among MAPT mutations reveal defects in calcium signaling
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.
Change in Cerebrospinal Fluid Tau Microtubule Binding Region Detects Symptom Onset, Cognitive Decline, Tangles, and Atrophy in Dominantly Inherited Alzheimer’s Disease
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.
Brain network decoupling with increased serum neurofilament and reduced cognitive function in Alzheimer’s disease
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.
Plasma glial fibrillary acidic protein in autosomal dominant Alzheimer’s disease: Associations with Aβ-PET, neurodegeneration, and cognition
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.
Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration
Mahali S, Martinez R, King M, Verbeck A, Harari O, Benitez BA, Horie K, Sato C, Temple S, Karch CM. Defective proteostasis in induced pluripotent stem cell models of frontotemporal lobar degeneration. Transl Psychiatry. 2022 Dec 10;12(1):508. doi: 10.1038/s41398-022-02274-5. PMID: 36494352; PMCID: PMC9734180.
CSF tau microtubule-binding region identifies pathological changes in primary tauopathies
Horie K, Barthélemy NR, Spina S, VandeVrede L, He Y, Paterson RW, Wright BA, Day GS, Davis AA, Karch CM, Seeley WW, Perrin RJ, Koppisetti RK, Shaikh F, Lago AL, Heuer HW, Ghoshal N, Gabelle A, Miller BL, Boxer AL, Bateman RJ, Sato C. CSF tau microtubule-binding region identifies pathological changes in primary tauopathies. Nat Med. 2022 Dec;28(12):2547-2554. doi: 10.1038/s41591-022-02075-9. Epub 2022 Nov 24. PMID: 36424467; PMCID: PMC9800273.
Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid
Drieu A, Du S, Storck SE, Rustenhoven J, Papadopoulos Z, Dykstra T, Zhong F, Kim K, Blackburn S, Mamuladze T, Harari O, Karch CM, Bateman RJ, Perrin R, Farlow M, Chhatwal J; Dominantly Inherited Alzheimer Network; Hu S, Randolph GJ, Smirnov I, Kipnis J. Parenchymal border macrophages regulate the flow dynamics of the cerebrospinal fluid. Nature. 2022 Nov;611(7936):585-593. doi: 10.1038/s41586-022-05397-3. Epub 2022 Nov 9. PMID: 36352225; PMCID: PMC9899827.
17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes
Bowles KR, Pugh DA, Liu Y, Patel T, Renton AE, Bandres-Ciga S, Gan-Or Z, Heutink P, Siitonen A, Bertelsen S, Cherry JD, Karch CM, Frucht SJ, Kopell BH, Peter I, Park YJ; International Parkinson’s Disease Genomics Consortium (IPDGC); Charney A, Raj T, Crary JF, Goate AM. 17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes. Mol Neurodegener. 2022 Jul 15;17(1):48. doi: 10.1186/s13024-022-00551-x. PMID: 35841044; PMCID: PMC9284779.
Metabolomic and lipidomic signatures in autosomal dominant and late-onset Alzheimer’s disease brains
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.
Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America
Takada LT, Aláez-Verson C, Burgute BD, Nitrini R, Sosa AL, Castilhos RM, Chaves MF, Longoria EM, Carrillo-Sánchez K, Brucki SMD, Flores-Lagunes LL, Molina C, Olivares MJ, Ziegemeier E, Petranek J, Goate AM, Cruchaga C, Renton AE, Fernández MV, Day GS, McDade E, Bateman RJ, Karch CM, Llibre-Guerra JJ; Dominantly Inherited Alzheimer Network. Discovery and validation of dominantly inherited Alzheimer’s disease mutations in populations from Latin America. Alzheimers Res Ther. 2022 Aug 5;14(1):108. doi: 10.1186/s13195-022-01052-1. PMID: 35932032; PMCID: PMC9354296.
Cholesterol and matrisome pathways dysregulated in astrocytes and microglia
Tcw J, Qian L, Pipalia NH, Chao MJ, Liang SA, Shi Y, Jain BR, Bertelsen SE, Kapoor M, Marcora E, Sikora E, Andrews EJ, Martini AC, Karch CM, Head E, Holtzman DM, Zhang B, Wang M, Maxfield FR, Poon WW, Goate AM. Cholesterol and matrisome pathways dysregulated in astrocytes and microglia. Cell. 2022 Jun 23;185(13):2213-2233.e25. doi: 10.1016/j.cell.2022.05.017. PMID: 35750033; PMCID: PMC9340815.
CSF Tau phosphorylation at Thr205 is associated with loss of white matter integrity in autosomal dominant Alzheimer disease
Strain JF, Barthelemy N, Horie K, Gordon BA, Kilgore C, Aschenbrenner A, Cruchaga C, Xiong C, Joseph-Mathurin N, Hassenstab J, Fagan AM, Li Y, Karch CM, Perrin RJ, Berman SB, Chhatwal JP, Graff-Radford NR, Mori H, Levin J, Noble JM, Allegri R, Schofield PR, Marcus DS, Holtzman DM, Morris JC, Benzinger TLS, McDade EM, Bateman RJ, Ances BM. CSF Tau phosphorylation at Thr205 is associated with loss of white matter integrity in autosomal dominant Alzheimer disease. Neurobiol Dis. 2022 Jun 15;168:105714. doi: 10.1016/j.nbd.2022.105714. Epub 2022 Mar 28. PMID: 35358703; PMCID: PMC9701560.
Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons
Capano LS, Sato C, Ficulle E, Yu A, Horie K, Kwon JS, Burbach KF, Barthélemy NR, Fox SG, Karch CM, Bateman RJ, Houlden H, Morimoto RI, Holtzman DM, Duff KE, Yoo AS. Recapitulation of endogenous 4R tau expression and formation of insoluble tau in directly reprogrammed human neurons. Cell Stem Cell. 2022 Jun 2;29(6):918-932.e8. doi: 10.1016/j.stem.2022.04.018. PMID: 35659876; PMCID: PMC9176216.
Pattern and implications of neurological examination findings in autosomal dominant Alzheimer disease
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.