Clayton, EL, Milioto, C, Muralidharan, B, Norona, FE, Edgar, JR, Soriano, A, Jafar-Nejad, P, Rigo, F, Collinge, J, Isaacs, AM. Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.. Brain. 2018;141 (12):3428-3442. doi: 10.1093/brain/awy284. PubMed PMID:30496365 PubMed Central PMC6262218.

Balendra, R, Isaacs, AM. C9orf72-mediated ALS and FTD: multiple pathways to disease.. Nat Rev Neurol. 2018;14 (9):544-558. doi: 10.1038/s41582-018-0047-2. PubMed PMID:30120348 .

Fratta, P, Sivakumar, P, Humphrey, J, Lo, K, Ricketts, T, Oliveira, H, Brito-Armas, JM, Kalmar, B, Ule, A, Yu, Y, Birsa, N, Bodo, C, Collins, T, Conicella, AE, Mejia Maza, A, Marrero-Gagliardi, A, Stewart, M, Mianne, J, Corrochano, S, Emmett, W, Codner, G, Groves, M, Fukumura, R, Gondo, Y, Lythgoe, M, Pauws, E, Peskett, E, Stanier, P, Teboul, L, Hallegger, M, Calvo, A, Chiò, A, Isaacs, AM, Fawzi, NL, Wang, E, Housman, DE, Baralle, F, Greensmith, L, Buratti, E, Plagnol, V, Fisher, EM, Acevedo-Arozena, A. Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.. EMBO J. 2018;37 (11):. doi: 10.15252/embj.201798684. PubMed PMID:29764981 PubMed Central PMC5983119.

Fratta, P, Isaacs, AM. The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.. Brain. 2018;141 (5):1236-1238. doi: 10.1093/brain/awy091. PubMed PMID:29701791 PubMed Central PMC5917769.

Moens, TG, Mizielinska, S, Niccoli, T, Mitchell, JS, Thoeng, A, Ridler, CE, Grönke, S, Esser, J, Heslegrave, A, Zetterberg, H, Partridge, L, Isaacs, AM. Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.. Acta Neuropathol. 2018;135 (3):445-457. doi: 10.1007/s00401-017-1798-3. PubMed PMID:29380049 .

Swinnen, B, Bento-Abreu, A, Gendron, TF, Boeynaems, S, Bogaert, E, Nuyts, R, Timmers, M, Scheveneels, W, Hersmus, N, Wang, J, Mizielinska, S, Isaacs, AM, Petrucelli, L, Lemmens, R, Van Damme, P, Van Den Bosch, L, Robberecht, W. A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.. Acta Neuropathol. 2018;135 (3):427-443. doi: 10.1007/s00401-017-1796-5. PubMed PMID:29302778 .

Simone, R, Balendra, R, Moens, TG, Preza, E, Wilson, KM, Heslegrave, A, Woodling, NS, Niccoli, T, Gilbert-Jaramillo, J, Abdelkarim, S, Clayton, EL, Clarke, M, Konrad, MT, Nicoll, AJ, Mitchell, JS, Calvo, A, Chio, A, Houlden, H, Polke, JM, Ismail, MA, Stephens, CE, Vo, T, Farahat, AA, Wilson, WD, Boykin, DW, Zetterberg, H, Partridge, L, Wray, S, Parkinson, G, Neidle, S, Patani, R, Fratta, P, Isaacs, AM. G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.. EMBO Mol Med. 2018;10 (1):22-31. doi: 10.15252/emmm.201707850. PubMed PMID:29113975 PubMed Central PMC5760849.

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. Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.. Brain. 2017;140 (11):2797-2805. doi: 10.1093/brain/awx248. PubMed PMID:29053787 PubMed Central PMC5841203.

Niccoli, T, Partridge, L, Isaacs, AM. Ageing as a risk factor for ALS/FTD.. Hum. Mol. Genet. 2017;26 (R2):R105-R113. doi: 10.1093/hmg/ddx247. PubMed PMID:28977441 .

Rostgaard, N, Roos, P, Budtz-Jørgensen, E, Johannsen, P, Waldemar, G, Nørremølle, A, Lindquist, SG, Gydesen, S, Brown, JM, Collinge, J, Isaacs, AM, FReJA collaboration, Nielsen, TT, Nielsen, JE. TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).. Neurobiol. Aging. 2017;59 :221.e1-221.e7. doi: 10.1016/j.neurobiolaging.2017.06.026. PubMed PMID:28888721 .

Hautbergue, GM, Castelli, LM, Ferraiuolo, L, Sanchez-Martinez, A, Cooper-Knock, J, Higginbottom, A, Lin, YH, Bauer, CS, Dodd, JE, Myszczynska, MA, Alam, SM, Garneret, P, Chandran, JS, Karyka, E, Stopford, MJ, Smith, EF, Kirby, J, Meyer, K, Kaspar, BK, Isaacs, AM, El-Khamisy, SF, De Vos, KJ, Ning, K, Azzouz, M, Whitworth, AJ, Shaw, PJ. SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.. Nat Commun. 2017;8 :16063. doi: 10.1038/ncomms16063. PubMed PMID:28677678 PubMed Central PMC5504286.

Humphrey, J, Emmett, W, Fratta, P, Isaacs, AM, Plagnol, V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion.. BMC Med Genomics. 2017;10 (1):38. doi: 10.1186/s12920-017-0274-1. PubMed PMID:28549443 PubMed Central PMC5446763.

Balendra, R, Moens, TG, Isaacs, AM. Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies.. EMBO Mol Med. 2017;9 (7):853-855. doi: 10.15252/emmm.201707848. PubMed PMID:28533210 PubMed Central PMC5524429.

Mizielinska, S, Ridler, CE, Balendra, R, Thoeng, A, Woodling, NS, Grässer, FA, Plagnol, V, Lashley, T, Partridge, L, Isaacs, AM. Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.. Acta Neuropathol Commun. 2017;5 (1):29. doi: 10.1186/s40478-017-0432-x. PubMed PMID:28420437 PubMed Central PMC5395972.

Moens, TG, Partridge, L, Isaacs, AM. Genetic models of C9orf72: what is toxic?. Curr. Opin. Genet. Dev. 2017;44 :92-101. doi: 10.1016/j.gde.2017.01.006. PubMed PMID:28364657 .

Clayton, EL, Mancuso, R, Nielsen, TT, Mizielinska, S, Holmes, H, Powell, N, Norona, F, Larsen, JO, Milioto, C, Wilson, KM, Lythgoe, MF, Ourselin, S, Nielsen, JE, Johannsen, P, Holm, I, Collinge, J, FReJA, Oliver, PL, Gomez-Nicola, D, Isaacs, AM. Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.. Hum. Mol. Genet. 2017;26 (5):873-887. doi: 10.1093/hmg/ddx003. PubMed PMID:28093491 PubMed Central PMC5409096.

Mizielinska, S, Isaacs, AM. NEURODEGENERATION. One target for amyotrophic lateral sclerosis therapy?. Science. 2016;353 (6300):647-8. doi: 10.1126/science.aah5408. PubMed PMID:27516584 .

Iyer, J, Wang, Q, Le, T, Pizzo, L, Grönke, S, Ambegaokar, SS, Imai, Y, Srivastava, A, Troisí, BL, Mardon, G, Artero, R, Jackson, GR, Isaacs, AM, Partridge, L, Lu, B, Kumar, JP, Girirajan, S. Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.. G3 (Bethesda). 2016;6 (5):1427-37. doi: 10.1534/g3.116.027060. PubMed PMID:26994292 PubMed Central PMC4856093.

Clayton, EL, Mizielinska, S, Edgar, JR, Nielsen, TT, Marshall, S, Norona, FE, Robbins, M, Damirji, H, Holm, IE, Johannsen, P, Nielsen, JE, Asante, EA, Collinge, J, FReJA consortium, Isaacs, AM. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.. Acta Neuropathol. 2015;130 (4):511-23. doi: 10.1007/s00401-015-1475-3. PubMed PMID:26358247 PubMed Central PMC4575387.

Gami, P, Murray, C, Schottlaender, L, Bettencourt, C, De Pablo Fernandez, E, Mudanohwo, E, Mizielinska, S, Polke, JM, Holton, JL, Isaacs, AM, Houlden, H, Revesz, T, Lashley, T. A 30-unit hexanucleotide repeat expansion in C9orf72 induces pathological lesions with dipeptide-repeat proteins and RNA foci, but not TDP-43 inclusions and clinical disease.. Acta Neuropathol. 2015;130 (4):599-601. doi: 10.1007/s00401-015-1473-5. PubMed PMID:26347457 .

Simone, R, Fratta, P, Neidle, S, Parkinson, GN, Isaacs, AM. G-quadruplexes: Emerging roles in neurodegenerative diseases and the non-coding transcriptome.. FEBS Lett. 2015;589 (14):1653-68. doi: 10.1016/j.febslet.2015.05.003. PubMed PMID:25979174 .

Chassefeyre, R, Martínez-Hernández, J, Bertaso, F, Bouquier, N, Blot, B, Laporte, M, Fraboulet, S, Couté, Y, Devoy, A, Isaacs, AM, Pernet-Gallay, K, Sadoul, R, Fagni, L, Goldberg, Y. Regulation of postsynaptic function by the dementia-related ESCRT-III subunit CHMP2B.. J. Neurosci. 2015;35 (7):3155-73. doi: 10.1523/JNEUROSCI.0586-14.2015. PubMed PMID:25698751 PubMed Central PMC4331633.

Rohrer, JD, Isaacs, AM, Mizielinska, S, Mead, S, Lashley, T, Wray, S, Sidle, K, Fratta, P, Orrell, RW, Hardy, J, Holton, J, Revesz, T, Rossor, MN, Warren, JD. C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis.. Lancet Neurol. 2015;14 (3):291-301. doi: 10.1016/S1474-4422(14)70233-9. PubMed PMID:25638642 .

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