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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: stepto a. Brain. 2018 Oct 1;141(10):2908-2924. doi: 10.1093/brain/awy241. Brain. 2018. PMID: 30239641 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: stepto a. 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.
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: stepto a. 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.