– 2024 –
van der Geest AT, Jakobs CE, Ljubikj T, Huffels CFM, Cañizares Luna M, Vieira de Sá R, Adolfs Y, de Wit M, Rutten DH, Kaal M, Zwartkruis MM, Carcolé M, Groen EJN, Hol EM, Basak O, Isaacs AM, Westeneng HJ, van den Berg LH, Veldink JH, Schlegel DK, Pasterkamp RJ. Molecular pathology, developmental changes and synaptic dysfunction in (pre-) symptomatic human C9ORF72-ALS/FTD cerebral organoids. Acta Neuropathol Commun. 2024 Sep 18;12(1):152. doi: 10.1186/s40478-024-01857-1. PMID: 39289761.
Scaber J, Thomas-Wright I, Clark AJ, Xu Y, Vahsen BF, Carcolé M, Dafinca R, Farrimond L, Isaacs AM, Bennett DL, Talbot K. Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons. Stem Cell Reports. 2024 Jun 6:S2213-6711(24)00150-4. doi: 10.1016/j.stemcr.2024.05.008. Online ahead of print. PMID: 38876108.
Cammack AJ, Balendra R, Isaacs AM. Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward. Brain. 2024 May 29:awae168. doi: 10.1093/brain/awae168. Online ahead of print. PMID: 38805751.
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. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nat Neurosci. 2024 Apr;27(4):643-655. doi: 10.1038/s41593-024-01589-4. PMID: 38424324.
– 2023 –
Rothstein JD, Baskerville V, Rapuri S, Mehlhop E, Jafar-Nejad P, Rigo F, Bennett F, Mizielinska S, Isaacs A, Coyne AN. G2C4 targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons. Acta Neuropathol. 2023 Nov 29;147(1):1. doi: 10.1007/s00401-023-02652-3. PMID: 38019311.
Vahsen BF, Nalluru S, Morgan GR, Farrimond L, Carroll E, Xu Y, Cramb KML, Amein B, Scaber J, Katsikoudi A, Candalija A, Carcolé M, Dafinca R, Isaacs AM, Wade-Martins R, Gray E, Turner MR, Cowley SA, Talbot K. C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9. Nat Commun. 2023 Sep 22;14(1):5898. doi: 10.1038/s41467-023-41603-0. PMID: 37736756.
Xu D, Vincent A, González-Gutiérrez A, Aleyakpo B, Anoar S, Giblin A, Atilano ML, Adams M, Shen D, Thoeng A, Tsintzas E, Maeland M, Isaacs AM, Sierralta J, Niccoli T. A monocarboxylate transporter rescues frontotemporal dementia and Alzheimer's disease models. PLoS Genet. 2023 Sep 21;19(9):e1010893. doi: 10.1371/journal.pgen.1010893. PMID: 37733679.
Morón-Oset J, Fischer LKS, Jauré N, Zhang P, Jahn AJ, Supèr T, Pahl A, Isaacs AM, Grönke S, Partridge L. Repeat length of C9orf72-associated glycine-alanine polypeptides affects their toxicity. Acta Neuropathol Commun. 2023 Aug 29;11(1):140. doi: 10.1186/s40478-023-01634-6. PMID: 37644512.
Balendra R, Ruiz de Los Mozos I, Odeh HM, Glaria I, Milioto C, Wilson KM, Ule AM, Hallegger M, Masino L, Martin S, Patani R, Shorter J, Ule J, Isaacs AM. Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides. Life Sci Alliance. 2023 Jul 12;6(9):e202201824. doi: 10.26508/lsa.202201824. PMID: 37438085.
Morón-Oset J, Fischer LK, Carcolé M, Giblin A, Zhang P, Isaacs AM, Grönke S, Partridge L. Toxicity of C9orf72-associated dipeptide repeat peptides is modified by commonly used protein tags. Life Sci Alliance. 2023 Jun 12;6(9):e202201739. doi: 10.26508/lsa.202201739. PMID: 37308278.
Fisher EMC, Greensmith L, Malaspina A, Fratta P, Hanna MG, Schiavo G, Isaacs AM, Orrell RW, Cunningham TJ, Arozena AA. Opinion: more mouse models and more translation needed for ALS. Mol Neurodegener. 2023 May 4;18(1):30. doi: 10.1186/s13024-023-00619-2. PMID: 37143081.
– 2022 –
Licata NV, Cristofani R, Salomonsson S, Wilson KM, Kempthorne L, Vaizoglu D, D'Agostino VG, Pollini D, Loffredo R, Pancher M, Adami V, Bellosta P, Ratti A, Viero G, Quattrone A, Isaacs AM, Poletti A, Provenzani A. C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation. EMBO J. 2022 Jan 441(1):e105026. doi: 10.15252/embj.2020105026. PMID: 34791698.
Clayton EL, Bonnycastle K, Isaacs AM, Cousin MA, Schorge S. A novel synaptopathy-defective synaptic vesicle protein trafficking in the mutant CHMP2B mouse model of frontotemporal dementia. J Neurochem. 2022 Feb;160(3):412-425. doi: 10.1111/jnc.15551. PMID: 34855215.
Wilson KM, Katona E, Glaria I, Carcolé M, Swift IJ, Sogorb-Esteve A, Heller C, Bouzigues A, Heslegrave AJ, Keshavan A, Knowles K, Patil S, Mohapatra S, Liu Y, Goyal J, Sanchez-Valle R, Laforce RJ, Synofzik M, Rowe JB, Finger E, Vandenberghe R, Butler CR, Gerhard A, Van Swieten JC, Seelaar H, Borroni B, Galimberti D, de Mendonça A, Masellis M, Tartaglia MC, Otto M, Graff C, Ducharme S, Schott JM, Malaspina A, Zetterberg H, Boyanapalli R, Rohrer JD, Isaacs AM; Genetic FTD Initiative (GENFI). Development of a sensitive trial-ready poly(GP) CSF biomarker assay for C9orf72-associated frontotemporal dementia and amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry. 2022 Jul;93(7):761-771. doi: 10.1136/jnnp-2021-328710. PMID: 35379698.
Roos P, Johannsen P, Lindquist SG, Brown JM, Waldemar G, Duno M, Nielsen TT, Budtz-Jørgensen E, Gydesen S, Holm IE, Collinge J, Isaacs AM; Frontotemporal dementia Research in Jutland Association (FReJA) consortium, Nielsen JE. Six generations of CHMP2B-mediated Frontotemporal Dementia: Clinical features, predictive testing, progression, and survival. Acta Neurol Scand. 2022 Jan 8. doi: 10.1111/ane.13578. PMID: 34997757.
– 2021 –
Barton SK, Gregory JM, Selvaraj BT, McDade K, Henstridge CM, Spires-Jones TL, James OG, Mehta AR, Story D, Burr K, Magnani D, Isaacs AM, Smith C, Chandran S. Dysregulation in Subcellular Localization of Myelin Basic Protein mRNA Does Not Result in Altered Myelination in Amyotrophic Lateral Sclerosis. Front Neurosci. 2021 Sep 1;15:705306. doi: 10.3389/fnins.2021.705306. PMID: 34539336.
Puentes F, Lombardi V, Lu CH, Yildiz O, Fratta P, Isaacs A, Bobeva Y, Wuu J; ALS Biomarker Consortium; CReATe Consortium, Benatar M, Malaspina A. Humoral response to neurofilaments and dipeptide repeats in ALS progression. Ann Clin Transl Neurol. 2021 Sep;8(9):1831-1844. doi: 10.1002/acn3.51428.PMID: 34318620.
Atilano ML, Grönke S, Niccoli T, Kempthorne L, Hahn O, Morón-Oset J, Hendrich O, Dyson M, Adams ML, Hull A, Salcher-Konrad MT, Monaghan A, Bictash M, Glaria I, Isaacs AM*, Partridge L*. Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila. Elife. 2021 Mar 19;10:e58565. doi: 10.7554/eLife.58565. PMID: 33739284. *Joint corresponding authors.
Nair RR, Tibbit C, Thompson D, McLeod R, Nakhuda A, Simon MM, Baloh RH, Fisher EMC, Isaacs AM & Cunningham TJ. Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs. Methods. 2021 Jul;191:15-22. doi: 10.1016/j.ymeth.2020.07.007. PMID: 32721467.
– 2020 –
Quaegebeur A, Glaria I, Lashley T & Isaacs AM. Soluble and insoluble dipeptide repeat protein measurements in C9orf72-frontotemporal dementia brains show regional differential solubility and correlation of poly-GR with clinical severity. Acta Neuropathol Commun. 2020 Nov 9;8(1):184. doi: 10.1186/s40478-020-01036-y. PMID: 32721467.
Clayton EL & Isaacs AM. Progranulin and TMEM106B: when two become wan. EMBO Rep. 2020 Oct 5;21(10):e51668. doi: /10.15252/embr.202051668. PMID: 32985120.
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. FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention. Nucleic Acids Res. 2020 Jun;48(12):6889-6905 doi: 10.1093/nar/gkaa410. PMID: 32479602.
– 2019 –
Morón-Oset J, Supèr T, Esser J, Isaacs AM, Grönke S & Partridge L. Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain. Acta Neuropathol Commun. 2019 Dec;7(1):209 doi: 10.1186/s40478-019-0860-x. PMID: 31843021.
Gittings LM, Boeynaems S, Lightwood D, Clargo A, Topia S, Nakayama L, Troakes C, Mann DMA, Gitler AD, Lashley T & Isaacs AM. Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity. Acta Neuropathol. 2019 Dec;139(2):407-410 doi: 10.1007/s00401-019-02104-x. PMID: 31832771.
Wilson KM, Muralidharan B, Isaacs AM. Relax, Don't RAN Translate It. Neuron. 2019 Dec;104(5):827-829 doi: 10.1016/j.neuron.2019.11.014. PMID: 31805259.
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. RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats. Nat. Neurosci. 2019 Jul;22(9):1383-1388 doi: 10.1038/s41593-019-0455-7. PMID: 31358992.
Gittings LM, Foti SC, Benson BC, Gami-Patel P, Isaacs AM & Lashley T. Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS. Acta Neuropathol Commun. 2019 Feb;7(1):18 doi: 10.1186/s40478-019-0673-y. PMID: 30755280.
Moens TG, Niccoli T, Wilson KM, Atilano ML, Birsa N, Gittings LM, Holbling BV, Dyson MC, Thoeng A, Neeves J, Glaria I, Yu L, Bussmann J, Storkebaum E, Pardo M, Choudhary JS, Fratta P, Partridge L & Isaacs AM. C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A. Acta Neuropathol. 2019 Jan;137(3):487-500 doi: 10.1007/s00401-018-1946-4. PMID: 30604225.
– 2018 –
Laferrière F, Maniecka Z, Pérez-Berlanga M, Hruska-Plochan M, Gilhespy L, Hock EM, Wagner U, Afroz T, Boersema PJ, Barmettler G, Foti SC, Asi YT, Isaacs AM, Al-Amoudi A, Lewis A, Stahlberg H, Ravits J, De Giorgi F, Ichas F, Bezard E, Picotti P, Lashley T & Polymenidou M. TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates. Nat. Neurosci. 2018 Dec;22(1):65-77 doi: 10.1038/s41593-018-0294-y. PMID: 30559480.
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 Nov;141(12):3428-3442 doi: 10.1093/brain/awy284. PMID: 30496365.
Tosh JL, Rickman M, Rhymes E, Norona FE, Clayton E, Mucke L, Isaacs AM, Fisher EMC & Wiseman FK. The integration site of the Wellcome Open Res. 2018 Oct;2:84 doi: 10.12688/wellcomeopenres.12237.2. PMID: 29062914.
Balendra R & Isaacs AM. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat Rev Neurol. 2018 Aug;14(9):544-558 doi: 10.1038/s41582-018-0047-2. 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 May;37(11):None doi: 10.15252/embj.201798684. PMID: 29764981.
Fratta P & Isaacs AM. The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis. Brain. 2018 Apr;141(5):1236-1238 doi: 10.1093/brain/awy091. PMID: 29701791.
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 Jan;135(3):445-457 doi: 10.1007/s00401-017-1798-3. 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 Jan;135(3):427-443 doi: 10.1007/s00401-017-1796-5. 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 pathology in vitro and in vivo. EMBO Mol Med. 2018 Jan;10(1):22-31. doi: 10.15252/emmm.201707850. PMID: 29113975.
– 2017 –
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 Oct;140(11):2797-2805 doi: 10.1093/brain/awx248. PMID: 29053787.
Niccoli T, Partridge L, Isaacs AM. Ageing as a risk factor for ALS/FTD. Hum. Mol. Genet. 2017 Oct;26(R2):R105-R113 doi: 10.1093/hmg/ddx247. 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, None None, Nielsen TT & Nielsen JE. TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3). Neurobiol. Aging. 2017 Sep;59:221.e1-221.e7 doi: 10.1016/j.neurobiolaging.2017.06.026. 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 Jul;8:16063 doi: 10.1038/ncomms16063. PMID: 28677678.
Humphrey J, Emmett W, Fratta P, Isaacs AM & Plagnol V. Quantitative analysis of cryptic splicing associated with TDP-43 depletion. BMC Med Genomics. 2017 May;10(1):38 doi: 10.1186/s12920-017-0274-1. PMID: 28549443.
Balendra R, Moens TG, Isaacs AM. Specific biomarkers for EMBO Mol Med. 2017 May;9(7):853-855 doi: 10.15252/emmm.201707848. PMID: 28533210.
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 Apr;5(1):29 doi: 10.1186/s40478-017-0432-x. PMID: 28420437.
Moens TG, Partridge L, Isaacs AM. Genetic models of C9orf72: what is toxic? Curr. Opin. Genet. Dev. 2017 Apr;44:92-101 doi: 10.1016/j.gde.2017.01.006. 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, None None, 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 Jan;26(5):873-887 doi: 10.1093/hmg/ddx003. PMID: 28093491.
– 2016 –
Mizielinska S & Isaacs AM. NEURODEGENERATION. One target for amyotrophic lateral sclerosis therapy? Science. 2016 Aug;353(6300):647-8 doi: 10.1126/science.aah5408. 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 Mar;6(5):1427-37 doi: 10.1534/g3.116.027060. PMID: 26994292.
– 2015 –
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, None None & Isaacs AM. Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology. Acta Neuropathol. 2015 Sep;130(4):511-23 doi: 10.1007/s00401-015-1475-3. PMID: 26358247.
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 Sep;130(4):599-601 doi: 10.1007/s00401-015-1473-5. 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 May;589(14):1653-68 doi: 10.1016/j.febslet.2015.05.003. 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 Feb;35(7):3155-73 doi: 10.1523/JNEUROSCI.0586-14.2015. PMID: 25698751.
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 Feb;14(3):291-301 doi: 10.1016/S1474-4422(14)70233-9. PMID: 25638642.
– 2014 –
Falcon B, Cavallini A, Angers R, Glover S, Murray TK, Barnham L, Jackson S, O'Neill MJ, Isaacs AM, Hutton ML, Szekeres PG, Goedert M & Bose S. Conformation determines the seeding potencies of native and recombinant Tau aggregates. J. Biol. Chem. 2014 Nov;290(2):1049-65 doi: 10.1074/jbc.M114.589309. PMID: 25406315.
Mizielinska S & Isaacs AM. C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function? Curr. Opin. Neurol. 2014 Sep;27(5):515-23 doi: 10.1097/WCO.0000000000000130. PMID: 25188012.
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. Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion. Neurobiol. Aging. 2014 Sep;36(1):546.e1-7 doi: 10.1016/j.neurobiolaging.2014.07.037. PMID: 25179228.
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. C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins. Science. 2014 Aug;345(6201):1192-1194 doi: 10.1126/science.1256800. PMID: 25103406.
Bit-Ivan EN, Lee KH, Gitelman D, Weintraub S, Mesulam M, Rademakers R, Isaacs AM, Hatanpaa KJ, White CL, Mao Q, Akman O, DiMauro S & Bigio EH. Adult polyglucosan body disease with GBE1 haploinsufficiency and concomitant frontotemporal lobar degeneration. Neuropathol. Appl. Neurobiol. 2014 Apr;40(6):778-82 doi: 10.1111/nan.12144. PMID: 24750115.
– 2013 –
Mizielinska S, Lashley T, Norona FE, Clayton EL, Ridler CE, Fratta P & Isaacs AM. C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci. Acta Neuropathol. 2013 Oct;126(6):845-57 doi: 10.1007/s00401-013-1200-z. PMID: 24170096.
Fratta P, Poulter M, Lashley T, Rohrer JD, Polke JM, Beck J, Ryan N, Hensman D, Mizielinska S, Waite AJ, Lai MC, Gendron TF, Petrucelli L, Fisher EM, Revesz T, Warren JD, Collinge J, Isaacs AM & Mead S. Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia. Acta Neuropathol. 2013 Jul;126(3):401-9 doi: 10.1007/s00401-013-1147-0. PMID: 23818065.
Lashley T, Hardy J, Isaacs AM. RANTing about C9orf72. Neuron. 2013 Feb;77(4):597-8 doi: 10.1016/j.neuron.2013.02.009. PMID: 23439112.
Beck J, Poulter M, Hensman D, Rohrer JD, Mahoney CJ, Adamson G, Campbell T, Uphill J, Borg A, Fratta P, Orrell RW, Malaspina A, Rowe J, Brown J, Hodges J, Sidle K, Polke JM, Houlden H, Schott JM, Fox NC, Rossor MN, Tabrizi SJ, Isaacs AM, Hardy J, Warren JD, Collinge J & Mead S. Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am. J. Hum. Genet. 2013 Feb;92(3):345-53 doi: 10.1016/j.ajhg.2013.01.011. PMID: 23434116.
– 2012 –
Fratta P, Mizielinska S, Nicoll AJ, Zloh M, Fisher EM, Parkinson G & Isaacs AM. C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes. Sci Rep. 2012 Dec;2:1016 doi: 10.1038/srep01016. PMID: 23264878.
Stokholm J, Teasdale TW, Johannsen P, Nielsen JE, Nielsen TT, Isaacs A, Brown JM, Gade A & None None. Cognitive impairment in the preclinical stage of dementia in FTD-3 CHMP2B mutation carriers: a longitudinal prospective study. J. Neurol. Neurosurg. Psychiatry. 2012 Nov;84(2):170-6 doi: 10.1136/jnnp-2012-303813. PMID: 23142962.
Nielsen TT, Mizielinska S, Hasholt L, Isaacs AM, Nielsen JE & None None. Reversal of pathology in CHMP2B-mediated frontotemporal dementia patient cells using RNA interference. J Gene Med. 2012 Jul;14(8):521-9 doi: 10.1002/jgm.2649. PMID: 22786763.
Lunau L, Mouridsen K, Rodell A, Ostergaard L, Nielsen JE, Isaacs A, Johannsen P & None None. Presymptomatic cerebral blood flow changes in CHMP2B mutation carriers of familial frontotemporal dementia (FTD-3), measured with MRI. BMJ Open. 2012 Mar;2(2):e000368 doi: 10.1136/bmjopen-2011-000368. PMID: 22422914.
Ghazi-Noori S, Froud KE, Mizielinska S, Powell C, Smidak M, Fernandez de Marco M, O'Malley C, Farmer M, Parkinson N, Fisher EM, Asante EA, Brandner S, Collinge J & Isaacs AM. Progressive neuronal inclusion formation and axonal degeneration in CHMP2B mutant transgenic mice. Brain. 2012 Mar;135(Pt 3):819-32 doi: 10.1093/brain/aws006. PMID: 22366797.
– 2011 –
Rohrer JD, Lashley T, Schott JM, Warren JE, Mead S, Isaacs AM, Beck J, Hardy J, de Silva R, Warrington E, Troakes C, Al-Sarraj S, King A, Borroni B, Clarkson MJ, Ourselin S, Holton JL, Fox NC, Revesz T, Rossor MN & Warren JD. Clinical and neuroanatomical signatures of tissue pathology in frontotemporal lobar degeneration. Brain. 2011 Sep;134(Pt 9):2565-81 doi: 10.1093/brain/awr198. PMID: 21908872.
Lashley T, Rohrer JD, Bandopadhyay R, Fry C, Ahmed Z, Isaacs AM, Brelstaff JH, Borroni B, Warren JD, Troakes C, King A, Al-Saraj S, Newcombe J, Quinn N, Ostergaard K, Schrøder HD, Bojsen-Møller M, Braendgaard H, Fox NC, Rossor MN, Lees AJ, Holton JL & Revesz T. A comparative clinical, pathological, biochemical and genetic study of fused in sarcoma proteinopathies. Brain. 2011 Jul;134(Pt 9):2548-64 doi: 10.1093/brain/awr160. PMID: 21752791.
Mackenzie IR, Neumann M, Cairns NJ, Munoz DG & Isaacs AM. Novel types of frontotemporal lobar degeneration: beyond tau and TDP-43. J. Mol. Neurosci. 2011 May;45(3):402-8 doi: 10.1007/s12031-011-9551-1. PMID: 21603977.
Rohrer JD, Warren JD, Reiman D, Uphill J, Beck J, Collinge J, Rossor MN, Isaacs AM & Mead S. A novel exon 2 I27V VCP variant is associated with dissimilar clinical syndromes. J. Neurol. 2011 Mar;258(8):1494-6 doi: 10.1007/s00415-011-5966-4. PMID: 21387114.
– 2010 –
Metcalf D & Isaacs AM. The role of ESCRT proteins in fusion events involving lysosomes, endosomes and autophagosomes. Biochem. Soc. Trans. 2010 Dec;38(6):1469-73 doi: 10.1042/BST0381469. PMID: 21118109.
Loy CT, McCusker E, Kril JJ, Kwok JB, Brooks WS, McCann H, Isaacs AM & Halliday GM. Very early-onset frontotemporal dementia with no family history predicts underlying fused in sarcoma pathology. Brain. 2010 Aug;133(Pt 12):e158; author reply e159 doi: 10.1093/brain/awq186. PMID: 20693541.
Rohrer JD, Lashley T, Holton J, Revesz T, Urwin H, Isaacs AM, Fox NC, Rossor MN & Warren J. The clinical and neuroanatomical phenotype of FUS associated frontotemporal lobar degeneration. J. Neurol. Neurosurg. Psychiatry. 2010 Jul;82(12):1405-7 doi: 10.1136/jnnp.2010.214437. PMID: 20639383.
Urwin H, Josephs KA, Rohrer JD, Mackenzie IR, Neumann M, Authier A, Seelaar H, Van Swieten JC, Brown JM, Johannsen P, Nielsen JE, Holm IE, None None, Dickson DW, Rademakers R, Graff-Radford NR, Parisi JE, Petersen RC, Hatanpaa KJ, White CL, Weiner MF, Geser F, Van Deerlin VM, Trojanowski JQ, Miller BL, Seeley WW, van der Zee J, Kumar-Singh S, Engelborghs S, De Deyn PP, Van Broeckhoven C, Bigio EH, Deng HX, Halliday GM, Kril JJ, Munoz DG, Mann DM, Pickering-Brown SM, Doodeman V, Adamson G, Ghazi-Noori S, Fisher EM, Holton JL, Revesz T, Rossor MN, Collinge J, Mead S & Isaacs AM. FUS pathology defines the majority of tau- and TDP-43-negative frontotemporal lobar degeneration. Acta Neuropathol. 2010 May;120(1):33-41 doi: 10.1007/s00401-010-0698-6. PMID: 20490813.
Urwin H, Authier A, Nielsen JE, Metcalf D, Powell C, Froud K, Malcolm DS, Holm I, Johannsen P, Brown J, Fisher EM, van der Zee J, Bruyland M, None None, Van Broeckhoven C, Collinge J, Brandner S, Futter C & Isaacs AM. Disruption of endocytic trafficking in frontotemporal dementia with CHMP2B mutations. Hum. Mol. Genet. 2010 Mar;19(11):2228-38 doi: 10.1093/hmg/ddq100. PMID: 20223751.
– 2009 –
Holm IE, Isaacs AM, Mackenzie IR. Absence of FUS-immunoreactive pathology in frontotemporal dementia linked to chromosome 3 (FTD-3) caused by mutation in the CHMP2B gene. Acta Neuropathol. 2009 Oct;118(5):719-20 doi: 10.1007/s00401-009-0593-1. PMID: 19844732.
Rohrer JD, Ahsan RL, Isaacs AM, Nielsen JE, Ostergaard L, Scahill R, Warren JD, Rossor MN, Fox NC, Johannsen P & None None. Presymptomatic generalized brain atrophy in frontotemporal dementia caused by CHMP2B mutation. Dement Geriatr Cogn Disord. 2009 Feb;27(2):182-6 doi: 10.1159/000200466. PMID: 19202337.
Eskildsen SF, Østergaard LR, Rodell AB, Østergaard L, Nielsen JE, Isaacs AM & Johannsen P. Cortical volumes and atrophy rates in FTD-3 CHMP2B mutation carriers and related non-carriers. Neuroimage. 2009 Jan;45(3):713-21 doi: 10.1016/j.neuroimage.2008.12.024. PMID: 19150504.
Urwin H, Ghazi-Noori S, Collinge J & Isaacs A. The role of CHMP2B in frontotemporal dementia. Biochem. Soc. Trans. 2009 Jan;37(Pt 1):208-12 doi: 10.1042/BST0370208. PMID: 19143633.
– 2008 –
Loerch PM, Lu T, Dakin KA, Vann JM, Isaacs A, Geula C, Wang J, Pan Y, Gabuzda DH, Li C, Prolla TA & Yankner BA. Evolution of the aging brain transcriptome and synaptic regulation. PLoS ONE. 2008 Oct;3(10):e3329 doi: 10.1371/journal.pone.0003329. PMID: 18830410.
Banks GT, Kuta A, Isaacs AM & Fisher EM. TDP-43 is a culprit in human neurodegeneration, and not just an innocent bystander. Mamm. Genome. 2008 Jul;19(5):299-305 doi: 10.1007/s00335-008-9117-x. PMID: 18592312.
Beck J, Rohrer JD, Campbell T, Isaacs A, Morrison KE, Goodall EF, Warrington EK, Stevens J, Revesz T, Holton J, Al-Sarraj S, King A, Scahill R, Warren JD, Fox NC, Rossor MN, Collinge J & Mead S. A distinct clinical, neuropsychological and radiological phenotype is associated with progranulin gene mutations in a large UK series. Brain. 2008 Feb;131(Pt 3):706-20 doi: 10.1093/brain/awm320. PMID: 18234697.
– 2007 –
Filimonenko M, Stuffers S, Raiborg C, Yamamoto A, Malerød L, Fisher EM, Isaacs A, Brech A, Stenmark H & Simonsen A. Functional multivesicular bodies are required for autophagic clearance of protein aggregates associated with neurodegenerative disease. J. Cell Biol. 2007 Nov;179(3):485-500 doi: 10.1083/jcb.200702115. PMID: 17984323.
van der Zee J, Urwin H, Engelborghs S, Bruyland M, Vandenberghe R, Dermaut B, De Pooter T, Peeters K, Santens P, De Deyn PP, Fisher EM, Collinge J, Isaacs AM & Van Broeckhoven C. CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro. Hum. Mol. Genet. 2007 Oct;17(2):313-22 doi: 10.1093/hmg/ddm309. PMID: 17956895.
Holm IE, Englund E, Mackenzie IR, Johannsen P & Isaacs AM. A reassessment of the neuropathology of frontotemporal dementia linked to chromosome 3. J. Neuropathol. Exp. Neurol. 2007 Oct;66(10):884-91 doi: 10.1097/nen.0b013e3181567f02. PMID: 17917582.