Lee Y - Search Results

1

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. Among authors: lee y. 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.

2

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.

3

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species.

Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE. Scotter EL, et al. J Cell Sci. 2014 Mar 15;127(Pt 6):1263-78. doi: 10.1242/jcs.140087. Epub 2014 Jan 14. J Cell Sci. 2014. PMID: 24424030 Free PMC article.

4

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. PLoS One. 2014 Mar 20;9(3):e91269. doi: 10.1371/journal.pone.0091269. eCollection 2014. PLoS One. 2014. PMID: 24651281 Free PMC article.

5

A serum microRNA signature for amyotrophic lateral sclersosis reveals convergent RNA processing defects and identifies presymptomatic mutation carriers.

Lee YB, Rogelj B, Shaw CE. Lee YB, et al. Brain. 2014 Nov;137(Pt 11):2875-6. doi: 10.1093/brain/awu262. Brain. 2014. PMID: 25344081 No abstract available.

6

Dipeptide repeat protein inclusions are rare in the spinal cord and almost absent from motor neurons in C9ORF72 mutant amyotrophic lateral sclerosis and are unlikely to cause their degeneration.

Gomez-Deza J, Lee YB, Troakes C, Nolan M, Al-Sarraj S, Gallo JM, Shaw CE. Gomez-Deza J, et al. Acta Neuropathol Commun. 2015 Jun 25;3:38. doi: 10.1186/s40478-015-0218-y. Acta Neuropathol Commun. 2015. PMID: 26108573 Free PMC article.

7

Phosphorylation of C-terminal tyrosine residue 526 in FUS impairs its nuclear import.

Darovic S, Prpar Mihevc S, Župunski V, Gunčar G, Štalekar M, Lee YB, Shaw CE, Rogelj B. Darovic S, et al. J Cell Sci. 2015 Nov 15;128(22):4151-9. doi: 10.1242/jcs.176602. Epub 2015 Sep 24. J Cell Sci. 2015. PMID: 26403203

8

Retention of hexanucleotide repeat-containing intron in C9orf72 mRNA: implications for the pathogenesis of ALS/FTD.

Niblock M, Smith BN, Lee YB, Sardone V, Topp S, Troakes C, Al-Sarraj S, Leblond CS, Dion PA, Rouleau GA, Shaw CE, Gallo JM. Niblock M, et al. Acta Neuropathol Commun. 2016 Feb 25;4:18. doi: 10.1186/s40478-016-0289-4. Acta Neuropathol Commun. 2016. PMID: 26916632 Free PMC article.

9

RNA Misprocessing in C9orf72-Linked Neurodegeneration.

Barker HV, Niblock M, Lee YB, Shaw CE, Gallo JM. Barker HV, et al. 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.

10

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Lee YB, Baskaran P, Gomez-Deza J, Chen HJ, Nishimura AL, Smith BN, Troakes C, Adachi Y, Stepto A, Petrucelli L, Gallo JM, Hirth F, Rogelj B, Guthrie S, Shaw CE. Lee YB, et al. Hum Mol Genet. 2017 Dec 15;26(24):4765-4777. doi: 10.1093/hmg/ddx350. Hum Mol Genet. 2017. PMID: 28973350 Free PMC article.

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