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TDP-43 mutations in familial and sporadic amyotrophic lateral sclerosis.
Sreedharan J, Blair IP, Tripathi VB, Hu X, Vance C, Rogelj B, Ackerley S, Durnall JC, Williams KL, Buratti E, Baralle F, de Belleroche J, Mitchell JD, Leigh PN, Al-Chalabi A, Miller CC, Nicholson G, Shaw CE. Sreedharan J, et al. Among authors: shaw ce. Science. 2008 Mar 21;319(5870):1668-72. doi: 10.1126/science.1154584. Epub 2008 Feb 28. Science. 2008. PMID: 18309045 Free PMC article.
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: shaw ce. 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: shaw ce. Neuropathology. 2009 Dec;29(6):672-83. doi: 10.1111/j.1440-1789.2009.01029.x. Epub 2009 Jun 3. Neuropathology. 2009. PMID: 19496940
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: shaw ce. 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.
321 results