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Page 1
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Mizielinska S, Grönke S, Niccoli T, Ridler CE, Clayton EL, Devoy A, Moens T, Norona FE, Woollacott IOC, Pietrzyk J, Cleverley K, Nicoll AJ, Pickering-Brown S, Dols J, Cabecinha M, Hendrich O, Fratta P, Fisher EMC, Partridge L, Isaacs AM. Mizielinska S, et al. Among authors: devoy a. Science. 2014 Sep 5;345(6201):1192-1194. doi: 10.1126/science.1256800. Epub 2014 Aug 7. Science. 2014. PMID: 25103406 Free PMC article.
Genomically humanized mice: technologies and promises.
Devoy A, Bunton-Stasyshyn RK, Tybulewicz VL, Smith AJ, Fisher EM. Devoy A, et al. Nat Rev Genet. 2011 Dec 16;13(1):14-20. doi: 10.1038/nrg3116. Nat Rev Genet. 2011. PMID: 22179716 Free PMC article. Review.
Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis.
Fratta P, Charnock J, Collins T, Devoy A, Howard R, Malaspina A, Orrell R, Sidle K, Clarke J, Shoai M, Lu CH, Hardy J, Plagnol V, Fisher EM. Fratta P, et al. Among authors: devoy a. J Neurol Neurosurg Psychiatry. 2014 May;85(5):506-8. doi: 10.1136/jnnp-2013-306761. Epub 2013 Dec 5. J Neurol Neurosurg Psychiatry. 2014. PMID: 24309268 Free PMC article.
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Fratta P, Polke JM, Newcombe J, Mizielinska S, Lashley T, Poulter M, Beck J, Preza E, Devoy A, Sidle K, Howard R, Malaspina A, Orrell RW, Clarke J, Lu CH, Mok K, Collins T, Shoaii M, Nanji T, Wray S, Adamson G, Pittman A, Renton AE, Traynor BJ, Sweeney MG, Revesz T, Houlden H, Mead S, Isaacs AM, Fisher EM. Fratta P, et al. Among authors: devoy a. Neurobiol Aging. 2015 Jan;36(1):546.e1-7. doi: 10.1016/j.neurobiolaging.2014.07.037. Epub 2014 Aug 1. Neurobiol Aging. 2015. PMID: 25179228 Free PMC article.
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Devoy A, Kalmar B, Stewart M, Park H, Burke B, Noy SJ, Redhead Y, Humphrey J, Lo K, Jaeger J, Mejia Maza A, Sivakumar P, Bertolin C, Soraru G, Plagnol V, Greensmith L, Acevedo Arozena A, Isaacs AM, Davies B, Fratta P, Fisher EMC. Devoy A, et al. Brain. 2017 Nov 1;140(11):2797-2805. doi: 10.1093/brain/awx248. Brain. 2017. PMID: 29053787 Free PMC article.
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Humphrey J, Birsa N, Milioto C, McLaughlin M, Ule AM, Robaldo D, Eberle AB, Kräuchi R, Bentham M, Brown AL, Jarvis S, Bodo C, Garone MG, Devoy A, Soraru G, Rosa A, Bozzoni I, Fisher EMC, Mühlemann O, Schiavo G, Ruepp MD, Isaacs AM, Plagnol V, Fratta P. Humphrey J, et al. Among authors: devoy a. Nucleic Acids Res. 2020 Jul 9;48(12):6889-6905. doi: 10.1093/nar/gkaa410. Nucleic Acids Res. 2020. PMID: 32479602 Free PMC article.
FUS-ALS mutants alter FMRP phase separation equilibrium and impair protein translation.
Birsa N, Ule AM, Garone MG, Tsang B, Mattedi F, Chong PA, Humphrey J, Jarvis S, Pisiren M, Wilkins OG, Nosella ML, Devoy A, Bodo C, de la Fuente RF, Fisher EMC, Rosa A, Viero G, Forman-Kay JD, Schiavo G, Fratta P. Birsa N, et al. Among authors: devoy a. Sci Adv. 2021 Jul 21;7(30):eabf8660. doi: 10.1126/sciadv.abf8660. Print 2021 Jul. Sci Adv. 2021. PMID: 34290090 Free PMC article.
Generation and analysis of innovative genomically humanized knockin SOD1, TARDBP (TDP-43), and FUS mouse models.
Devoy A, Price G, De Giorgio F, Bunton-Stasyshyn R, Thompson D, Gasco S, Allan A, Codner GF, Nair RR, Tibbit C, McLeod R, Ali Z, Noda J, Marrero-Gagliardi A, Brito-Armas JM, Williams C, Öztürk MM, Simon M, O'Neill E, Bryce-Smith S, Harrison J, Atkins G, Corrochano S, Stewart M, Gilthorpe JD, Teboul L, Acevedo-Arozena A, Fisher EMC, Cunningham TJ. Devoy A, et al. iScience. 2021 Nov 15;24(12):103463. doi: 10.1016/j.isci.2021.103463. eCollection 2021 Dec 17. iScience. 2021. PMID: 34988393 Free PMC article.
21 results