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2013 2
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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. Science. 2014 Sep 5;345(6201):1192-1194. doi: 10.1126/science.1256800. Epub 2014 Aug 7. Science. 2014. PMID: 25103406 Free PMC article.
Mutation in the FUS nuclear localisation signal domain causes neurodevelopmental and systemic metabolic alterations.
Ali Z, Godoy-Corchuelo JM, Martins-Bach AB, Garcia-Toledo I, Fernández-Beltrán LC, Nair RR, Spring S, Nieman BJ, Jimenez-Coca I, Bains RS, Forrest H, Lerch JP, Miller KL, Fisher EMC, Cunningham TJ, Corrochano S. Ali Z, et al. Dis Model Mech. 2023 Oct 1;16(10):dmm050200. doi: 10.1242/dmm.050200. Epub 2023 Oct 23. Dis Model Mech. 2023. PMID: 37772684 Free PMC article.
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. 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.
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.
TDP-43 mutations increase HNRNP A1-7B through gain of splicing function.
Sivakumar P, De Giorgio F, Ule AM, Neeves J, Nair RR, Bentham M, Birsa N, Humphrey J, Plagnol V, Acevedo-Arozena A, Cunningham TJ, Fisher EMC, Fratta P. Sivakumar P, et al. Brain. 2018 Dec 1;141(12):e83. doi: 10.1093/brain/awy260. Brain. 2018. PMID: 30364928 No abstract available.
13 results