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Items: 4

1.

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.

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

2.

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.

Hum Mol Genet. 2017 Dec 15;26(24):4765-4777. doi: 10.1093/hmg/ddx350.

3.

Modelling C9ORF72 hexanucleotide repeat expansion in amyotrophic lateral sclerosis and frontotemporal dementia.

Stepto A, Gallo JM, Shaw CE, Hirth F.

Acta Neuropathol. 2014 Mar;127(3):377-89. doi: 10.1007/s00401-013-1235-1. Epub 2013 Dec 24. Review.

PMID:
24366528
4.

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.

Hum Mol Genet. 2013 Apr 15;22(8):1539-57. doi: 10.1093/hmg/ddt005. Epub 2013 Jan 10.

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