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PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Milioto C, Carcolé M, Giblin A, Coneys R, Attrebi O, Ahmed M, Harris SS, Lee BI, Yang M, Ellingford RA, Nirujogi RS, Biggs D, Salomonsson S, Zanovello M, de Oliveira P, Katona E, Glaria I, Mikheenko A, Geary B, Udine E, Vaizoglu D, Anoar S, Jotangiya K, Crowley G, Smeeth DM, Adams ML, Niccoli T, Rademakers R, van Blitterswijk M, Devoy A, Hong S, Partridge L, Coyne AN, Fratta P, Alessi DR, Davies B, Busche MA, Greensmith L, Fisher EMC, Isaacs AM. Milioto C, et al. Among authors: isaacs am. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. Epub 2024 Feb 29. Nat Neurosci. 2024. PMID: 38424324 Free PMC article.
Genetic models of C9orf72: what is toxic?
Moens TG, Partridge L, Isaacs AM. Moens TG, et al. Among authors: isaacs am. Curr Opin Genet Dev. 2017 Jun;44:92-101. doi: 10.1016/j.gde.2017.01.006. Epub 2017 Mar 29. Curr Opin Genet Dev. 2017. PMID: 28364657 Review.
Ageing as a risk factor for ALS/FTD.
Niccoli T, Partridge L, Isaacs AM. Niccoli T, et al. Among authors: isaacs am. Hum Mol Genet. 2017 Oct 1;26(R2):R105-R113. doi: 10.1093/hmg/ddx247. Hum Mol Genet. 2017. PMID: 28977441 Review.
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Yamada SB, Gendron TF, Niccoli T, Genuth NR, Grosely R, Shi Y, Glaria I, Kramer NJ, Nakayama L, Fang S, Dinger TJI, Thoeng A, Rocha G, Barna M, Puglisi JD, Partridge L, Ichida JK, Isaacs AM, Petrucelli L, Gitler AD. Yamada SB, et al. Among authors: isaacs am. Nat Neurosci. 2019 Sep;22(9):1383-1388. doi: 10.1038/s41593-019-0455-7. Epub 2019 Jul 29. Nat Neurosci. 2019. PMID: 31358992 Free PMC article.
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: isaacs am. Science. 2014 Sep 5;345(6201):1192-1194. doi: 10.1126/science.1256800. Epub 2014 Aug 7. Science. 2014. PMID: 25103406 Free PMC article.
Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.
Moens TG, Mizielinska S, Niccoli T, Mitchell JS, Thoeng A, Ridler CE, Grönke S, Esser J, Heslegrave A, Zetterberg H, Partridge L, Isaacs AM. Moens TG, et al. Among authors: isaacs am. Acta Neuropathol. 2018 Mar;135(3):445-457. doi: 10.1007/s00401-017-1798-3. Epub 2018 Jan 29. Acta Neuropathol. 2018. PMID: 29380049 Free PMC article.
141 results