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The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH Jr, Weale ME, Al-Chalabi A, Shaw CE. Smith BN, et al. Eur J Hum Genet. 2013 Jan;21(1):102-8. doi: 10.1038/ejhg.2012.98. Epub 2012 Jun 13. Eur J Hum Genet. 2013. PMID: 22692064 Free PMC article.
Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.
Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE. Lee YB, et al. Cell Rep. 2013 Dec 12;5(5):1178-86. doi: 10.1016/j.celrep.2013.10.049. Epub 2013 Nov 27. Cell Rep. 2013. PMID: 24290757 Free PMC article.
Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells.
Nishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee YB, Chen HJ, Bilican B, Carrasco M, Maniatis T, Chandran S, Rogelj B, Gallo JM, Shaw CE. Nishimura AL, et al. Among authors: lee yb. PLoS One. 2014 Mar 20;9(3):e91269. doi: 10.1371/journal.pone.0091269. eCollection 2014. PLoS One. 2014. PMID: 24651281 Free PMC article.
RNA Misprocessing in C9orf72-Linked Neurodegeneration.
Barker HV, Niblock M, Lee YB, Shaw CE, Gallo JM. Barker HV, et al. Among authors: lee yb. Front Cell Neurosci. 2017 Jul 11;11:195. doi: 10.3389/fncel.2017.00195. eCollection 2017. Front Cell Neurosci. 2017. PMID: 28744202 Free PMC article. Review.
1,037 results