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Drosophila TDP-43 dysfunction in glia and muscle cells cause cytological and behavioural phenotypes that characterize ALS and FTLD.
Diaper DC, Adachi Y, Lazarou L, Greenstein M, Simoes FA, Di Domenico A, Solomon DA, Lowe S, Alsubaie R, Cheng D, Buckley S, Humphrey DM, Shaw CE, Hirth F. Diaper DC, et al. Among authors: shaw ce. Hum Mol Genet. 2013 Oct 1;22(19):3883-93. doi: 10.1093/hmg/ddt243. Epub 2013 May 31. Hum Mol Genet. 2013. PMID: 23727833 Free PMC article.
Loss and gain of Drosophila TDP-43 impair synaptic efficacy and motor control leading to age-related neurodegeneration by loss-of-function phenotypes.
Diaper DC, Adachi Y, Sutcliffe B, Humphrey DM, Elliott CJ, Stepto A, Ludlow ZN, Vanden Broeck L, Callaerts P, Dermaut B, Al-Chalabi A, Shaw CE, Robinson IM, Hirth F. Diaper DC, et al. Among authors: shaw ce. Hum Mol Genet. 2013 Apr 15;22(8):1539-57. doi: 10.1093/hmg/ddt005. Epub 2013 Jan 10. Hum Mol Genet. 2013. PMID: 23307927 Free PMC article.
A feedback loop between dipeptide-repeat protein, TDP-43 and karyopherin-α mediates C9orf72-related neurodegeneration.
Solomon DA, Stepto A, Au WH, Adachi Y, Diaper DC, Hall R, Rekhi A, Boudi A, Tziortzouda P, Lee YB, Smith B, Bridi JC, Spinelli G, Dearlove J, Humphrey DM, Gallo JM, Troakes C, Fanto M, Soller M, Rogelj B, Parsons RB, Shaw CE, Hortobágyi T, Hirth F. Solomon DA, et al. Among authors: shaw ce. Brain. 2018 Oct 1;141(10):2908-2924. doi: 10.1093/brain/awy241. Brain. 2018. PMID: 30239641 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. Among authors: shaw ce. 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.
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. Among authors: shaw ce. Hum Mol Genet. 2021 Apr 26;30(3-4):318-320. doi: 10.1093/hmg/ddaa181. Hum Mol Genet. 2021. PMID: 32888026 Free PMC article. No abstract available.
Cytoplasmic TDP-43 is involved in cell fate during stress recovery.
Lee YB, Scotter EL, Lee DY, Troakes C, Mitchell J, Rogelj B, Gallo JM, Shaw CE. Lee YB, et al. Among authors: shaw ce. Hum Mol Genet. 2021 Dec 27;31(2):166-175. doi: 10.1093/hmg/ddab227. Hum Mol Genet. 2021. PMID: 34378050 Free PMC article.
321 results