2022
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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.
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Astrocytic 4R tau expression drives astrocyte reactivity and dysfunction
Ezerskiy LA, Schoch KM, Sato C, Beltcheva M, Horie K, Rigo F, Martynowicz R, Karch CM, Bateman RJ, Miller TM. Astrocytic 4R tau expression drives astrocyte reactivity and dysfunction. JCI Insight. 2022 Jan 11;7(1):e152012. doi: 10.1172/jci.insight.152012. PMID: 34874917; PMCID: PMC8765054.
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Astrocytic α2-Na+/K+ ATPase inhibition suppresses astrocyte reactivity and reduces neurodegeneration in a tauopathy mouse model
Mann CN, Devi SS, Kersting CT, Bleem AV, Karch CM, Holtzman DM, Gallardo G. Astrocytic α2-Na+/K+ ATPase inhibition suppresses astrocyte reactivity and reduces neurodegeneration in a tauopathy mouse model. Sci Transl Med. 2022 Feb 16;14(632):eabm4107. doi: 10.1126/scitranslmed.abm4107. Epub 2022 Feb 16. PMID: 35171651; PMCID: PMC9161722.
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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.
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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.
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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.
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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.
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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.
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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.
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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.
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Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer’s disease: a longitudinal observational study
Morenas-Rodríguez E, Li Y, Nuscher B, Franzmeier N, Xiong C, Suárez-Calvet M, Fagan AM, Schultz S, Gordon BA, Benzinger TLS, Hassenstab J, McDade E, Feederle R, Karch CM, Schlepckow K, Morris JC, Kleinberger G, Nellgard B, Vöglein J, Blennow K, Zetterberg H, Ewers M, Jucker M, Levin J, Bateman RJ, Haass C; Dominantly Inherited Alzheimer Network. Soluble TREM2 in CSF and its association with other biomarkers and cognition in autosomal-dominant Alzheimer's disease: a longitudinal observational study. Lancet Neurol. 2022 Apr;21(4):329-341. doi: 10.1016/S1474-4422(22)00027-8. Erratum in: Lancet Neurol. 2022 May;21(5):e5. PMID: 35305339; PMCID: PMC8926925.
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Soluble TREM2: Innocent bystander or active player in neurological diseases?
Filipello F, Goldsbury C, You SF, Locca A, Karch CM, Piccio L. Soluble TREM2: Innocent bystander or active player in neurological diseases? Neurobiol Dis. 2022 Jan 15;165:105630. doi: 10.1016/j.nbd.2022.105630. Epub ahead of print. PMID: 35041990.
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Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer’s disease: cross-sectional and longitudinal analyses of an observational study
Chhatwal JP, Schultz SA, McDade E, Schultz AP, Liu L, Hanseeuw BJ, Joseph-Mathurin N, Feldman R, Fitzpatrick CD, Sparks KP, Levin J, Berman SB, Renton AE, Esposito BT, Fernandez MV, Sung YJ, Lee JH, Klunk WE, Hofmann A, Noble JM, Graff-Radford N, Mori H, Salloway SM, Masters CL, Martins R, Karch CM, Xiong C, Cruchaga C, Perrin RJ, Gordon BA, Benzinger TLS, Fox NC, Schofield PR, Fagan AM, Goate AM, Morris JC, Bateman RJ, Johnson KA, Sperling RA; Dominantly Inherited Alzheimer's Network Investigators. Variant-dependent heterogeneity in amyloid β burden in autosomal dominant Alzheimer's disease: cross-sectional and longitudinal analyses of an observational study. Lancet Neurol. 2022 Feb;21(2):140-152. doi: 10.1016/S1474-4422(21)00375-6. PMID: 35065037.