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FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE; FReJA Consortium; Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL 3rd, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S, Isaacs AM. Urwin H, et al. Among authors: deng hx. Acta Neuropathol. 2010 Jul;120(1):33-41. doi: 10.1007/s00401-010-0698-6. Epub 2010 May 20. Acta Neuropathol. 2010. PMID: 20490813 Free PMC article.
Inclusions in frontotemporal lobar degeneration with TDP-43 proteinopathy (FTLD-TDP) and amyotrophic lateral sclerosis (ALS), but not FTLD with FUS proteinopathy (FTLD-FUS), have properties of amyloid.
Bigio EH, Wu JY, Deng HX, Bit-Ivan EN, Mao Q, Ganti R, Peterson M, Siddique N, Geula C, Siddique T, Mesulam M. Bigio EH, et al. Among authors: deng hx. Acta Neuropathol. 2013 Mar;125(3):463-5. doi: 10.1007/s00401-013-1089-6. Epub 2013 Feb 3. Acta Neuropathol. 2013. PMID: 23378033 Free PMC article. No abstract available.
Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia.
Deng HX, Chen W, Hong ST, Boycott KM, Gorrie GH, Siddique N, Yang Y, Fecto F, Shi Y, Zhai H, Jiang H, Hirano M, Rampersaud E, Jansen GH, Donkervoort S, Bigio EH, Brooks BR, Ajroud K, Sufit RL, Haines JL, Mugnaini E, Pericak-Vance MA, Siddique T. Deng HX, et al. Nature. 2011 Aug 21;477(7363):211-5. doi: 10.1038/nature10353. Nature. 2011. PMID: 21857683 Free PMC article.
Dendritic spinopathy in transgenic mice expressing ALS/dementia-linked mutant UBQLN2.
Gorrie GH, Fecto F, Radzicki D, Weiss C, Shi Y, Dong H, Zhai H, Fu R, Liu E, Li S, Arrat H, Bigio EH, Disterhoft JF, Martina M, Mugnaini E, Siddique T, Deng HX. Gorrie GH, et al. Among authors: deng hx. Proc Natl Acad Sci U S A. 2014 Oct 7;111(40):14524-9. doi: 10.1073/pnas.1405741111. Epub 2014 Sep 22. Proc Natl Acad Sci U S A. 2014. PMID: 25246588 Free PMC article.
Conversion to the amyotrophic lateral sclerosis phenotype is associated with intermolecular linked insoluble aggregates of SOD1 in mitochondria.
Deng HX, Shi Y, Furukawa Y, Zhai H, Fu R, Liu E, Gorrie GH, Khan MS, Hung WY, Bigio EH, Lukas T, Dal Canto MC, O'Halloran TV, Siddique T. Deng HX, et al. Proc Natl Acad Sci U S A. 2006 May 2;103(18):7142-7. doi: 10.1073/pnas.0602046103. Epub 2006 Apr 24. Proc Natl Acad Sci U S A. 2006. PMID: 16636275 Free PMC article.
251 results