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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: li z. Sci Transl Med. 2019 Aug 14;11(505):eaau2291. doi: 10.1126/scitranslmed.aau2291. Sci Transl Med. 2019. PMID: 31413141 Free PMC article.
TREM2 brain transcript-specific studies in AD and TREM2 mutation carriers.
Del-Aguila JL, Benitez BA, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Farias FHG, Fernández MV, Ibanez L, Jiang S, Perrin RJ, Cairns NJ, Morris JC, Harari O, Cruchaga C. Del-Aguila JL, et al. Among authors: li z. Mol Neurodegener. 2019 May 8;14(1):18. doi: 10.1186/s13024-019-0319-3. Mol Neurodegener. 2019. PMID: 31068200 Free PMC article.
Examination of the Effect of Rare Variants in TREM2, ABI3, and PLCG2 in LOAD Through Multiple Phenotypes.
Olive C, Ibanez L, Farias FHG, Wang F, Budde JP, Norton JB, Gentsch J, Morris JC, Li Z, Dube U, Del-Aguila J, Bergmann K, Bradley J, Benitez BA, Harari O, Fagan A, Ances B, Cruchaga C, Fernandez MV. Olive C, et al. Among authors: li z. J Alzheimers Dis. 2020;77(4):1469-1482. doi: 10.3233/JAD-200019. J Alzheimers Dis. 2020. PMID: 32894242 Free PMC article.
Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers.
Deming Y, Li Z, Kapoor M, Harari O, Del-Aguila JL, Black K, Carrell D, Cai Y, Fernandez MV, Budde J, Ma S, Saef B, Howells B, Huang KL, Bertelsen S, Fagan AM, Holtzman DM, Morris JC, Kim S, Saykin AJ, De Jager PL, Albert M, Moghekar A, O'Brien R, Riemenschneider M, Petersen RC, Blennow K, Zetterberg H, Minthon L, Van Deerlin VM, Lee VM, Shaw LM, Trojanowski JQ, Schellenberg G, Haines JL, Mayeux R, Pericak-Vance MA, Farrer LA, Peskind ER, Li G, Di Narzo AF; Alzheimer’s Disease Neuroimaging Initiative (ADNI); Alzheimer Disease Genetic Consortium (ADGC); Kauwe JS, Goate AM, Cruchaga C. Deming Y, et al. Among authors: li z, li g. Acta Neuropathol. 2017 May;133(5):839-856. doi: 10.1007/s00401-017-1685-y. Epub 2017 Feb 28. Acta Neuropathol. 2017. PMID: 28247064 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: li z. Transl Psychiatry. 2018 Dec 13;8(1):265. doi: 10.1038/s41398-018-0319-z. Transl Psychiatry. 2018. PMID: 30546007 Free PMC article.
The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion.
Li Z, Farias FHG, Dube U, Del-Aguila JL, Mihindukulasuriya KA, Fernandez MV, Ibanez L, Budde JP, Wang F, Lake AM, Deming Y, Perez J, Yang C, Bahena JA, Qin W, Bradley JL, Davenport R, Bergmann K, Morris JC, Perrin RJ, Benitez BA, Dougherty JD, Harari O, Cruchaga C. Li Z, et al. Acta Neuropathol. 2020 Jan;139(1):45-61. doi: 10.1007/s00401-019-02066-0. Epub 2019 Aug 27. Acta Neuropathol. 2020. PMID: 31456032 Free PMC article.
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders.
Yang C, Farias FHG, Ibanez L, Suhy A, Sadler B, Fernandez MV, Wang F, Bradley JL, Eiffert B, Bahena JA, Budde JP, Li Z, Dube U, Sung YJ, Mihindukulasuriya KA, Morris JC, Fagan AM, Perrin RJ, Benitez BA, Rhinn H, Harari O, Cruchaga C. Yang C, et al. Among authors: li z. Nat Neurosci. 2021 Sep;24(9):1302-1312. doi: 10.1038/s41593-021-00886-6. Epub 2021 Jul 8. Nat Neurosci. 2021. PMID: 34239129 Free PMC article.
A single-nuclei RNA sequencing study of Mendelian and sporadic AD in the human brain.
Del-Aguila JL, Li Z, Dube U, Mihindukulasuriya KA, Budde JP, Fernandez MV, Ibanez L, Bradley J, Wang F, Bergmann K, Davenport R, Morris JC, Holtzman DM, Perrin RJ, Benitez BA, Dougherty J, Cruchaga C, Harari O. Del-Aguila JL, et al. Among authors: li z. Alzheimers Res Ther. 2019 Aug 9;11(1):71. doi: 10.1186/s13195-019-0524-x. Alzheimers Res Ther. 2019. PMID: 31399126 Free PMC article.
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