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Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.
Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE. Vance C, et al. Among authors: hortobagyi t. Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942. Science. 2009. PMID: 19251628 Free PMC article.
TDP-43 is consistently co-localized with ubiquitinated inclusions in sporadic and Guam amyotrophic lateral sclerosis but not in familial amyotrophic lateral sclerosis with and without SOD1 mutations.
Maekawa S, Leigh PN, King A, Jones E, Steele JC, Bodi I, Shaw CE, Hortobagyi T, Al-Sarraj S. Maekawa S, et al. Among authors: hortobagyi t. Neuropathology. 2009 Dec;29(6):672-83. doi: 10.1111/j.1440-1789.2009.01029.x. Epub 2009 Jun 3. Neuropathology. 2009. PMID: 19496940
Effects of cis-regulatory variation differ across regions of the adult human brain.
Buonocore F, Hill MJ, Campbell CD, Oladimeji PB, Jeffries AR, Troakes C, Hortobagyi T, Williams BP, Cooper JD, Bray NJ. Buonocore F, et al. Among authors: hortobagyi t. Hum Mol Genet. 2010 Nov 15;19(22):4490-6. doi: 10.1093/hmg/ddq380. Epub 2010 Sep 9. Hum Mol Genet. 2010. PMID: 20829226 Free PMC article.
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.
Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T, Nishimura AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B, Shaw CE, Ule J. Tollervey JR, et al. Among authors: hortobagyi t. Nat Neurosci. 2011 Apr;14(4):452-8. doi: 10.1038/nn.2778. Epub 2011 Feb 27. Nat Neurosci. 2011. PMID: 21358640 Free PMC article.
461 results