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Page 1
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. Filipello F, et al. Among authors: karch cm. Acta Neuropathol. 2023 Jun;145(6):749-772. doi: 10.1007/s00401-023-02568-y. Epub 2023 Apr 28. Acta Neuropathol. 2023. PMID: 37115208 Free PMC article.
Genetic variants associated with Alzheimer's disease confer different cerebral cortex cell-type population structure.
Li Z, Del-Aguila JL, Dube U, Budde J, Martinez R, Black K, Xiao Q, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); Dougherty JD, Lee JM, Morris JC, Bateman RJ, Karch CM, Cruchaga C, Harari O. Li Z, et al. Among authors: karch cm. Genome Med. 2018 Jun 8;10(1):43. doi: 10.1186/s13073-018-0551-4. Genome Med. 2018. PMID: 29880032 Free PMC article.
Integrative system biology analyses of CRISPR-edited iPSC-derived neurons and human brains reveal deficiencies of presynaptic signaling in FTLD and PSP.
Jiang S, Wen N, Li Z, Dube U, Del Aguila J, Budde J, Martinez R, Hsu S, Fernandez MV, Cairns NJ; Dominantly Inherited Alzheimer Network (DIAN); International FTD-Genomics Consortium (IFGC); Harari O, Cruchaga C, Karch CM. Jiang S, et al. Among authors: karch cm. Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z. Transl Psychiatry. 2018. PMID: 30546007 Free PMC article.
The MS4A gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk.
Deming Y, Filipello F, Cignarella F, Cantoni C, Hsu S, Mikesell R, Li Z, Del-Aguila JL, Dube U, Farias FG, Bradley J, Budde J, Ibanez L, Fernandez MV, Blennow K, Zetterberg H, Heslegrave A, Johansson PM, Svensson J, Nellgård B, Lleo A, Alcolea D, Clarimon J, Rami L, Molinuevo JL, Suárez-Calvet M, Morenas-Rodríguez E, Kleinberger G, Ewers M, Harari O, Haass C, Brett TJ, Benitez BA, Karch CM, Piccio L, Cruchaga C. Deming Y, et al. Among authors: karch cm. Sci Transl Med. 2019 Aug 14;11(505):eaau2291. doi: 10.1126/scitranslmed.aau2291. Sci Transl Med. 2019. PMID: 31413141 Free PMC article.
A Comprehensive Resource for Induced Pluripotent Stem Cells from Patients with Primary Tauopathies.
Karch CM, Kao AW, Karydas A, Onanuga K, Martinez R, Argouarch A, Wang C, Huang C, Sohn PD, Bowles KR, Spina S, Silva MC, Marsh JA, Hsu S, Pugh DA, Ghoshal N, Norton J, Huang Y, Lee SE, Seeley WW, Theofilas P, Grinberg LT, Moreno F, McIlroy K, Boeve BF, Cairns NJ, Crary JF, Haggarty SJ, Ichida JK, Kosik KS, Miller BL, Gan L, Goate AM, Temple S; Tau Consortium Stem Cell Group. Karch CM, et al. Stem Cell Reports. 2019 Nov 12;13(5):939-955. doi: 10.1016/j.stemcr.2019.09.006. Epub 2019 Oct 17. Stem Cell Reports. 2019. PMID: 31631020 Free PMC article.
ELAVL4, splicing, and glutamatergic dysfunction precede neuron loss in MAPT mutation cerebral organoids.
Bowles KR, Silva MC, Whitney K, Bertucci T, Berlind JE, Lai JD, Garza JC, Boles NC, Mahali S, Strang KH, Marsh JA, Chen C, Pugh DA, Liu Y, Gordon RE, Goderie SK, Chowdhury R, Lotz S, Lane K, Crary JF, Haggarty SJ, Karch CM, Ichida JK, Goate AM, Temple S. Bowles KR, et al. Among authors: karch cm. Cell. 2021 Aug 19;184(17):4547-4563.e17. doi: 10.1016/j.cell.2021.07.003. Epub 2021 Jul 26. Cell. 2021. PMID: 34314701 Free PMC article.
Long non-coding RNA SNHG8 drives stress granule formation in tauopathies.
Bhagat R, Minaya MA, Renganathan A, Mehra M, Marsh J, Martinez R, Nana AL, Spina S, Seeley WW, Grinberg LT, Karch CM. Bhagat R, et al. Among authors: karch cm. medRxiv [Preprint]. 2023 Mar 1:2023.02.27.23286548. doi: 10.1101/2023.02.27.23286548. medRxiv. 2023. PMID: 36909621 Free PMC article. Updated. Preprint.
133 results