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The MAPT H1c risk haplotype is associated with increased expression of tau and especially of 4 repeat containing transcripts.
Myers AJ, Pittman AM, Zhao AS, Rohrer K, Kaleem M, Marlowe L, Lees A, Leung D, McKeith IG, Perry RH, Morris CM, Trojanowski JQ, Clark C, Karlawish J, Arnold S, Forman MS, Van Deerlin V, de Silva R, Hardy J. Myers AJ, et al. Among authors: de silva r. Neurobiol Dis. 2007 Mar;25(3):561-70. doi: 10.1016/j.nbd.2006.10.018. Epub 2006 Dec 15. Neurobiol Dis. 2007. PMID: 17174556
Argyrophilic grain disease is a sporadic 4-repeat tauopathy.
Togo T, Sahara N, Yen SH, Cookson N, Ishizawa T, Hutton M, de Silva R, Lees A, Dickson DW. Togo T, et al. Among authors: de silva r. J Neuropathol Exp Neurol. 2002 Jun;61(6):547-56. doi: 10.1093/jnen/61.6.547. J Neuropathol Exp Neurol. 2002. PMID: 12071638
Pathological inclusion bodies in tauopathies contain distinct complements of tau with three or four microtubule-binding repeat domains as demonstrated by new specific monoclonal antibodies.
de Silva R, Lashley T, Gibb G, Hanger D, Hope A, Reid A, Bandopadhyay R, Utton M, Strand C, Jowett T, Khan N, Anderton B, Wood N, Holton J, Revesz T, Lees A. de Silva R, et al. Neuropathol Appl Neurobiol. 2003 Jun;29(3):288-302. doi: 10.1046/j.1365-2990.2003.00463.x. Neuropathol Appl Neurobiol. 2003. PMID: 12787326
The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy.
Hogg M, Grujic ZM, Baker M, Demirci S, Guillozet AL, Sweet AP, Herzog LL, Weintraub S, Mesulam MM, LaPointe NE, Gamblin TC, Berry RW, Binder LI, de Silva R, Lees A, Espinoza M, Davies P, Grover A, Sahara N, Ishizawa T, Dickson D, Yen SH, Hutton M, Bigio EH. Hogg M, et al. Among authors: de silva r. Acta Neuropathol. 2003 Oct;106(4):323-36. doi: 10.1007/s00401-003-0734-x. Epub 2003 Jul 19. Acta Neuropathol. 2003. PMID: 12883828
Detecting tau isoforms in archival cases.
de Silva R, Lashley T, Revesz T, Lees A, Powers JM. de Silva R, et al. Acta Neuropathol. 2004 Feb;107(2):181-2. doi: 10.1007/s00401-003-0795-x. Epub 2003 Dec 2. Acta Neuropathol. 2004. PMID: 14652684 No abstract available.
642 results