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AD-linked R47H-TREM2 mutation induces disease-enhancing microglial states via AKT hyperactivation.
Sayed FA, Kodama L, Fan L, Carling GK, Udeochu JC, Le D, Li Q, Zhou L, Wong MY, Horowitz R, Ye P, Mathys H, Wang M, Niu X, Mazutis L, Jiang X, Wang X, Gao F, Brendel M, Telpoukhovskaia M, Tracy TE, Frost G, Zhou Y, Li Y, Qiu Y, Cheng Z, Yu G, Hardy J, Coppola G, Wang F, DeTure MA, Zhang B, Xie L, Trajnowski JQ, Lee VMY, Gong S, Sinha SC, Dickson DW, Luo W, Gan L. Sayed FA, et al. Among authors: deture ma. Sci Transl Med. 2021 Dec;13(622):eabe3947. doi: 10.1126/scitranslmed.abe3947. Epub 2021 Dec 1. Sci Transl Med. 2021. PMID: 34851693 Free PMC article.
A novel tau mutation, p.K317N, causes globular glial tauopathy.
Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tacik P, et al. Acta Neuropathol. 2015 Aug;130(2):199-214. doi: 10.1007/s00401-015-1425-0. Epub 2015 Apr 22. Acta Neuropathol. 2015. PMID: 25900293 Free PMC article.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R. Pottier C, et al. Acta Neuropathol. 2015 Jul;130(1):77-92. doi: 10.1007/s00401-015-1436-x. Epub 2015 May 6. Acta Neuropathol. 2015. PMID: 25943890 Free PMC article.
A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease.
Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tacik P, et al. J Neuropathol Exp Neurol. 2015 Nov;74(11):1042-52. doi: 10.1097/NEN.0000000000000248. J Neuropathol Exp Neurol. 2015. PMID: 26426266 Free PMC article.
92 results