Browse by UCL people
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Number of items: 60.
Article
Atilano, ML;
Grönke, S;
Niccoli, T;
Kempthorne, L;
Hahn, O;
Morón-Oset, J;
Hendrich, O;
... Partridge, L; + view all
(2021)
Enhanced insulin signalling ameliorates C9orf72 hexanucleotide repeat expansion toxicity in Drosophila.
eLife
, 10
, Article e58565. 10.7554/eLife.58565.
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Balendra, Rubika;
Ruiz de Los Mozos, Igor;
Odeh, Hana M;
Glaria, Idoia;
Milioto, Carmelo;
Wilson, Katherine M;
Ule, Agnieszka M;
... Isaacs, Adrian M; + view all
(2023)
Transcriptome-wide RNA binding analysis of C9orf72 poly(PR) dipeptides.
Life Science Alliance
, 6
(9)
, Article e202201824. 10.26508/lsa.202201824.
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Balendra, R;
Isaacs, AM;
(2018)
C9orf72-mediated ALS and FTD: multiple pathways to disease.
Nature Reviews Neurology
, 14
(9)
pp. 544-558.
10.1038/s41582-018-0047-2.
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Balendra, R;
Moens, TG;
Isaacs, AM;
(2017)
Specific biomarkers for C9orf72 FTD/ALS could expedite the journey towards effective therapies.
EMBO Molecular Medicine
, 9
(7)
, Article e201707848. 10.15252/emmm.201707848.
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Barton, SK;
Gregory, JM;
Selvaraj, BT;
McDade, K;
Henstridge, CM;
Spires-Jones, TL;
James, OG;
... Chandran, S; + view all
(2021)
Dysregulation in Subcellular Localization of Myelin Basic Protein mRNA Does Not Result in Altered Myelination in Amyotrophic Lateral Sclerosis.
Frontiers in Neuroscience
, 15
, Article 705306. 10.3389/fnins.2021.705306.
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Boyanova, Sevda;
Banks, Gareth;
Lipina, Tatiana V;
Bains, Rasneer Sonia;
Forrest, Hamish;
Stewart, Michelle;
Carcolé, Mireia;
... Wiseman, Frances K; + view all
(2025)
Multi-modal comparative phenotyping of knock-in mouse models of frontotemporal dementia/amyotrophic lateral sclerosis.
Disease Models & Mechanisms
, 18
(8)
, Article dmm052324. 10.1242/dmm.052324.
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Cammack, Alexander J;
Balendra, Rubika;
Isaacs, Adrian M;
(2024)
Failure of C9orf72 sense repeat-targeting antisense oligonucleotides: lessons learned and the path forward.
Brain
, 147
(8)
pp. 2607-2609.
10.1093/brain/awae168.
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Clayton, EL;
Isaacs, AM;
(2020)
Progranulin and TMEM106B: when two become wan.
EMBO Reports
, 21
(10)
, Article e51668. 10.15252/embr.202051668.
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Clayton, EL;
Mancuso, R;
Nielsen, TT;
Mizielinska, S;
Holmes, H;
Powell, N;
Norona, F;
... Isaacs, AM; + view all
(2017)
Early microgliosis precedes neuronal loss and behavioural impairment in mice with a frontotemporal dementia-causing CHMP2B mutation.
Human Molecular Genetics
, 26
(5)
pp. 873-887.
10.1093/hmg/ddx003.
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Clayton, EL;
Milioto, C;
Muralidharan, B;
Norona, FE;
Edgar, JR;
Soriano, A;
Jafar-Nejad, P;
... Isaacs, AM; + view all
(2018)
Frontotemporal dementia causative CHMP2B impairs neuronal endolysosomal traffic-rescue by TMEM106B knockdown.
Brain
, 141
(12)
pp. 3428-3442.
10.1093/brain/awy284.
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Clayton, EL;
Mizielinska, S;
Edgar, JR;
Nielsen, TT;
Marshall, S;
Norona, FE;
Robbins, M;
... Isaacs, AM; + view all
(2015)
Frontotemporal dementia caused by CHMP2B mutation is characterised by neuronal lysosomal storage pathology.
Acta Neuropathologica
, 130
(4)
pp. 511-523.
10.1007/s00401-015-1475-3.
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Devoy, A;
Kalmar, B;
Stewart, M;
Park, H;
Burke, B;
Noy, SJ;
Redhead, Y;
... Fisher, EMC; + view all
(2017)
Humanized mutant FUS drives progressive motor neuron degeneration without aggregation in 'FUSDelta14' knockin mice.
Brain
, 140
(11)
pp. 2797-2805.
10.1093/brain/awx248.
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Fratta, P;
Isaacs, AM;
(2018)
The snowball effect of RNA binding protein dysfunction in amyotrophic lateral sclerosis.
Brain
, 141
(5)
pp. 1236-1238.
10.1093/brain/awy091.
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Fratta, P;
Mizielinska, S;
Nicoll, AJ;
Zloh, M;
Fisher, EM;
Parkinson, G;
Isaacs, AM;
(2012)
C9orf72 hexanucleotide repeat associated with amyotrophic lateral sclerosis and frontotemporal dementia forms RNA G-quadruplexes.
Scientific Reports
, 2
, Article 1016. 10.1038/srep01016.
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Fratta, P;
Polke, JM;
Newcombe, J;
Mizielinska, S;
Lashley, T;
Poulter, M;
Beck, J;
... Fisher, EM; + view all
(2015)
Screening a UK amyotrophic lateral sclerosis cohort provides evidence of multiple origins of the C9orf72 expansion.
Neurobiology of Aging
, 36
(1)
546.e1-546.e7.
10.1016/j.neurobiolaging.2014.07.037.
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Fratta, P;
Poulter, M;
Lashley, T;
Rohrer, JD;
Polke, JM;
Beck, J;
Ryan, N;
... Mead, S; + view all
(2013)
Homozygosity for the C9orf72 GGGGCC repeat expansion in frontotemporal dementia.
Acta Neuropathologica
, 126
(3)
pp. 401-409.
10.1007/s00401-013-1147-0.
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Fratta, P;
Sivakumar, P;
Humphrey, J;
Lo, K;
Ricketts, T;
Oliveira, H;
Brito-Armas, JM;
... Acevedo-Arozena, A; + view all
(2018)
Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.
EMBO Journal
, 2018
, Article e98684. 10.15252/embj.201798684.
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Gami, P;
Murray, C;
Schottlaender, L;
Bettencourt, C;
De Pablo Fernandez, E;
Mudanohwo, E;
Mizielinska, S;
... Lashley, T; + view all
(2015)
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 Neuropathologica
, 130
(4)
pp. 599-601.
10.1007/s00401-015-1473-5.
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Giblin, Ashling;
Cammack, Alexander J;
Blomberg, Niek;
Anoar, Sharifah;
Mikheenko, Alla;
Carcole, Mireia;
Atilano, Magda L;
... Isaacs, Adrian M; + view all
(2025)
Neuronal polyunsaturated fatty acids are protective in ALS/FTD.
Nature Neuroscience
, 28
(4)
pp. 737-747.
10.1038/s41593-025-01889-3.
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Giblin, Ashling;
Cammack, Alexander J;
Blomberg, Niek;
Anoar, Sharifah;
Mikheenko, Alla;
Carcole, Mireia;
Atilano, Magda L;
... Isaacs, Adrian M; + view all
(2025)
Neuronal polyunsaturated fatty acids are protective in ALS/FTD (Feb, 10.1038/s41593-025-01889-3, 2025).
[Corrigendum].
Nature Neuroscience
, 28
(4)
p. 913.
10.1038/s41593-025-01926-1.
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Gittings, LM;
Boeynaems, S;
Lightwood, D;
Clargo, A;
Topia, S;
Nakayama, L;
Troakes, C;
... Isaacs, AM; + view all
(2019)
Symmetric dimethylation of poly-GR correlates with disease duration in C9orf72 FTLD and ALS and reduces poly-GR phase separation and toxicity.
Acta Neuropathologica
10.1007/s00401-019-02104-x.
(In press).
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Gittings, LM;
Foti, SC;
Benson, BC;
Gami-Patel, P;
Isaacs, AM;
Lashley, T;
(2019)
Heterogeneous nuclear ribonucleoproteins R and Q accumulate in pathological inclusions in FTLD-FUS.
Acta Neuropathol Commun
, 7
(1)
, Article 18. 10.1186/s40478-019-0673-y.
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Hautbergue, GM;
Castelli, LM;
Ferraiuolo, L;
Sanchez-Martinez, A;
Cooper-Knock, J;
Higginbottom, A;
Lin, Y-H;
... Shaw, PJ; + view all
(2017)
SRSF1-dependent nuclear export inhibition of C9ORF72 repeat transcripts prevents neurodegeneration and associated motor deficits.
Nat Commun
, 8
, Article 16063. 10.1038/ncomms16063.
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Hölbling, BV;
Gupta, Y;
Marchi, PM;
Atilano, ML;
Flower, M;
Ureña, E;
Goulden, RA;
... Isaacs, AM; + view all
(2025)
A multimodal screening platform for endogenous dipeptide repeat proteins in C9orf72 patient iPSC neurons.
Cell Reports
, 44
(5)
, Article 115695. 10.1016/j.celrep.2025.115695.
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Humphrey, J;
Birsa, N;
Milioto, C;
McLaughlin, M;
Ule, AM;
Robaldo, D;
Eberle, AB;
... Fratta, P; + view all
(2020)
FUS ALS-causative mutations impair FUS autoregulation and splicing factor networks through intron retention.
Nucleic Acids Research
10.1093/nar/gkaa410.
(In press).
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Humphrey, J;
Emmett, W;
Fratta, P;
Isaacs, AM;
Plagnol, V;
(2017)
Quantitative analysis of cryptic splicing associated with TDP-43 depletion.
BMC Medical Genomics
, 10
(1)
, Article 38. 10.1186/s12920-017-0274-1.
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Hutten, Saskia;
Chen, Jia-Xuan;
Isaacs, Adrian M;
Dormann, Dorothee;
(2024)
Poly-GR Impairs PRMT1-Mediated Arginine Methylation of Disease-Linked RNA-Binding Proteins by Acting as a Substrate Sink.
Biochemistry
, 63
(17)
pp. 2141-2152.
10.1021/acs.biochem.4c00308.
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Iyer, J;
Wang, Q;
Le, T;
Pizzo, L;
Grönke, S;
Ambegaokar, S;
Imai, Y;
... Girirajan, S; + view all
(2016)
Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.
G3 (Bethesda)
, 6
(5)
pp. 1427-1437.
10.1534/g3.116.027060.
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Jakabek, D;
Isaacs, AM;
De Strooper, B;
Tuszynski, M;
Lane, R;
Uspenskaya, O;
McDade, E;
... Mummery, CJ; + view all
(2025)
CTAD taskforce: genetic therapies in Alzheimer’s disease.
The Journal of Prevention of Alzheimer's Disease
, Article 100269. 10.1016/j.tjpad.2025.100269.
(In press).
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Kempthorne, Liam;
Vaizoglu, Deniz;
Cammack, Alexander J;
Carcolé, Mireia;
Roberts, Martha J;
Mikheenko, Alla;
Fisher, Alessia;
... Isaacs, Adrian M; + view all
(2025)
Dual-targeting CRISPR-CasRx reduces C9orf72 ALS/FTD sense and antisense repeat RNAs in vitro and in vivo.
Nature Communications
, 16
, Article 459. 10.1038/s41467-024-55550-x.
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Laferrière, F;
Maniecka, Z;
Pérez-Berlanga, M;
Hruska-Plochan, M;
Gilhespy, L;
Hock, E-M;
Wagner, U;
... Polymenidou, M; + view all
(2019)
TDP-43 extracted from frontotemporal lobar degeneration subject brains displays distinct aggregate assemblies and neurotoxic effects reflecting disease progression rates.
Nature Neuroscience
, 22
(1)
pp. 65-77.
10.1038/s41593-018-0294-y.
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Lashley, T;
Hardy, J;
Isaacs, AM;
(2013)
RANTing about C9orf72.
Neuron
, 77
(4)
597 - 598.
10.1016/j.neuron.2013.02.009.
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Licata, N;
Cristofani, R;
Salomonsson, S;
Wilson, KM;
Kempthorne, L;
Vaizoglu, D;
D'Agostino, VG;
... Provenzani, A; + view all
(2021)
C9orf72 ALS/FTD dipeptide repeat protein levels are reduced by small molecules that inhibit PKA or enhance protein degradation.
The EMBO Journal
, Article e105026. 10.15252/embj.2020105026.
(In press).
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Loerch, PM;
Lu, T;
Dakin, KA;
Vann, JM;
Isaacs, A;
Geula, C;
Wang, J;
... Yankner, BA; + view all
(2008)
Evolution of the Aging Brain Transcriptome and Synaptic Regulation.
PLOS ONE
, 3
(10)
, Article e3329. 10.1371/journal.pone.0003329.
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Milioto, Carmelo;
Carcolé, Mireia;
Giblin, Ashling;
Coneys, Rachel;
Attrebi, Olivia;
Ahmed, Mhoriam;
Harris, Samuel S;
... Isaacs, Adrian M; + view all
(2024)
PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons.
Nature Neuroscience
10.1038/s41593-024-01589-4.
(In press).
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Mizielinska, Sarah;
Hautbergue, Guillaume M;
Gendron, Tania F;
van Blitterswijk, Marka;
Hardiman, Orla;
Ravits, John;
Isaacs, Adrian M;
(2025)
Amyotrophic lateral sclerosis caused by hexanucleotide repeat expansions in C9orf72: from genetics to therapeutics.
The Lancet Neurology
, 24
(3)
pp. 261-274.
10.1016/S1474-4422(25)00026-2.
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Mizielinska, S;
Grönke, S;
Niccoli, T;
Ridler, CE;
Clayton, EL;
Devoy, A;
Moens, T;
... Isaacs, AM; + view all
(2014)
C9orf72 repeat expansions cause neurodegeneration in Drosophila through arginine-rich proteins.
Science
10.1126/science.1256800.
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Mizielinska, S;
Isaacs, AM;
(2016)
One target for amyotrophic lateral sclerosis therapy?
Science
, 353
(6300)
pp. 647-648.
10.1126/science.aah5408.
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Mizielinska, S;
Isaacs, AM;
(2014)
C9orf72 amyotrophic lateral sclerosis and frontotemporal dementia: gain or loss of function?
Curr Opin Neurol
, 27
(5)
515 - 523.
10.1097/WCO.0000000000000130.
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Mizielinska, S;
Lashley, T;
Norona, FE;
Clayton, EL;
Ridler, CE;
Fratta, P;
Isaacs, AM;
(2013)
C9orf72 frontotemporal lobar degeneration is characterised by frequent neuronal sense and antisense RNA foci.
Acta Neuropathologica
, 126
(6)
845- 857.
10.1007/s00401-013-1200-z.
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Mizielinska, S;
Ridler, CE;
Balendra, R;
Thoeng, A;
Woodling, NS;
Grässer, FA;
Plagnol, V;
... Isaacs, AM; + view all
(2017)
Bidirectional nucleolar dysfunction in C9orf72 frontotemporal lobar degeneration.
Acta Neuropathologica Communications
, 5
, Article 29. 10.1186/s40478-017-0432-x.
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Moens, TG;
Mizielinska, S;
Niccoli, T;
Mitchell, JS;
Thoeng, A;
Ridler, CE;
Grönke, S;
... Isaacs, AM; + view all
(2018)
Sense and antisense RNA are not toxic in Drosophila models of C9orf72-associated ALS/FTD.
Acta Neuropathologica
, 135
(3)
pp. 445-457.
10.1007/s00401-017-1798-3.
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Moens, TG;
Niccoli, T;
Wilson, KM;
Atilano, ML;
Birsa, N;
Gittings, LM;
Holbling, BV;
... Isaacs, AM; + view all
(2019)
C9orf72 arginine-rich dipeptide proteins interact with ribosomal proteins in vivo to induce a toxic translational arrest that is rescued by eIF1A.
Acta Neuropathologica
10.1007/s00401-018-1946-4.
(In press).
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Moens, TG;
Partridge, L;
Isaacs, AM;
(2017)
Genetic models of C9orf72: What is toxic?
Current Opinion in Genetics and Development
, 44
pp. 92-101.
10.1016/j.gde.2017.01.006.
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Moron-Oset, Javier;
Fischer, Lilly Katharina Sophie;
Jaure, Nathalie;
Zhang, Pingze;
Jahn, Annika Julia;
Super, Tessa;
Pahl, Andre;
... Partridge, Linda; + view all
(2023)
Repeat length of C9orf72-associated glycine–alanine polypeptides affects their toxicity.
Acta Neuropathologica Communications
, 11
, Article 140. 10.1186/s40478-023-01634-6.
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Morón-Oset, Javier;
Fischer, Lilly Ks;
Carcolé, Mireia;
Giblin, Ashling;
Zhang, Pingze;
Isaacs, Adrian M;
Grönke, Sebastian;
(2023)
Toxicity of C9orf72-associated dipeptide repeat peptides is modified by commonly used protein tags.
Life Science Alliance
, 6
(9)
, Article e202201739. 10.26508/lsa.202201739.
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Morón-Oset, J;
Supèr, T;
Esser, J;
Isaacs, AM;
Grönke, S;
Partridge, L;
(2019)
Glycine-alanine dipeptide repeats spread rapidly in a repeat length- and age-dependent manner in the fly brain.
Acta Neuropathologica Communications
, 7
, Article 209. 10.1186/s40478-019-0860-x.
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Nair, RR;
Tibbit, C;
Thompson, D;
McLeod, R;
Nakhuda, A;
Simon, MM;
Baloh, RH;
... Cunningham, TJ; + view all
(2020)
Sizing, stabilising, and cloning repeat-expansions for gene targeting constructs.
Methods
10.1016/j.ymeth.2020.07.007.
(In press).
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Niccoli, T;
Partridge, L;
Isaacs, A;
(2019)
RPS25 is required for efficient RAN translation of C9orf72 and other neurodegenerative disease-associated nucleotide repeats.
Nature Neuroscience
, 22
pp. 1383-1388.
10.1038/s41593-019-0455-7.
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Niccoli, T;
Partridge, L;
Isaacs, AM;
(2017)
Ageing as a risk factor for ALS/FTD.
Human Molecular Genetics
, 26
(R2)
R105-R113.
10.1093/hmg/ddx247.
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Puentes, F;
Lombardi, V;
Lu, C-H;
Yildiz, O;
Fratta, P;
Isaacs, A;
Bobeva, Y;
... Malaspina, A; + view all
(2021)
Humoral response to neurofilaments and dipeptide repeats in ALS progression.
Annals of Clinical and Translational Neurology
10.1002/acn3.51428.
(In press).
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Quaegebeur, A;
Glaria, I;
Lashley, T;
Isaacs, AM;
(2020)
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 Neuropathologica Communications
, 8
(1)
, Article 184. 10.1186/s40478-020-01036-y.
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Rostgaard, N;
Roos, P;
Budtz-Jorgensen, E;
Johannsen, P;
Waldemar, G;
Norremolle, A;
Lindquist, SG;
... Nielsen, JE; + view all
(2017)
TMEM106B and ApoE polymorphisms in CHMP2B-mediated frontotemporal dementia (FTD-3).
Neurobiology of Aging
, 59
221.e1-221.e7.
10.1016/j.neurobiolaging.2017.06.026.
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Rothstein, Jeffrey D;
Baskerville, Victoria;
Rapuri, Sampath;
Mehlhop, Emma;
Jafar-Nejad, Paymaan;
Rigo, Frank;
Bennett, Frank;
... Coyne, Alyssa N; + view all
(2023)
G₂C₄ targeting antisense oligonucleotides potently mitigate TDP-43 dysfunction in human C9orf72 ALS/FTD induced pluripotent stem cell derived neurons.
Acta Neuropathologica
, 147
, Article 1. 10.1007/s00401-023-02652-3.
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Simone, R;
Balendra, R;
Moens, TG;
Preza, E;
Wilson, KM;
Heslegrave, A;
Woodling, NS;
... Isaacs, AM; + view all
(2018)
G-quadruplex-binding small molecules ameliorate C9orf72 FTD/ALS pathology in vitro and in vivo.
EMBO Molecular Medicine
, 10
(1)
pp. 22-31.
10.15252/emmm.201707850.
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Swinnen, B;
Bento-Abreu, A;
Gendron, TF;
Boeynaems, S;
Bogaert, E;
Nuyts, R;
Timmers, M;
... Robberecht, W; + view all
(2018)
A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism.
Acta Neuropathologica
10.1007/s00401-017-1796-5.
(In press).
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Tosh, J;
Rickman, M;
Rhymes, E;
Norona, F;
Clayton, E;
Mucke, L;
Isaacs, A;
... Wiseman, F; + view all
(2018)
The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease.
Wellcome Open Research
, 2
, Article 84. 10.12688/wellcomeopenres.12237.2.
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Tosh, JL;
Rickman, M;
Rhymes, E;
Norona, FE;
Clayton, E;
Mucke, L;
Isaacs, AM;
... Wiseman, FK; + view all
(2017)
The integration site of the APP transgene in the J20 mouse model of Alzheimer’s disease.
Wellcome Open Research
, 2
, Article 84. 10.12688/wellcomeopenres.12237.1.
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Vahsen, Björn F;
Nalluru, Sumedha;
Morgan, Georgia R;
Farrimond, Lucy;
Carroll, Emily;
Xu, Yinyan;
Cramb, Kaitlyn ML;
... Talbot, Kevin; + view all
(2023)
C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.
Nature Communications
, 14
, Article 5898. 10.1038/s41467-023-41603-0.
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Wilson, KM;
Muralidharan, B;
Isaacs, AM;
(2019)
Relax, Don't RAN Translate It.
Neuron
, 104
(5)
pp. 827-829.
10.1016/j.neuron.2019.11.014.
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