Dr Agnes Nishimura
Lecturer in Neuroscience
Neuroscience, Surgery and Trauma, Blizard Institute
Queen Mary University of London
Queen Mary University of London
Research
Neuroscience, iPSC, disease modelling, organoids, Neurodegenerative diseases, Amyotrophic lateral sclerosis
Interests
My research focuses on understanding the disease mechanisms of neurodegenerative diseases, including Amyotrophic Lateral Sclerosis (ALS), Frontotemporal dementia, Alzheimer's disease and traumatic brain injury. My expertise in stem cell research and disease modelling led to the creation of a biobank of inducible pluripotent stem cells from patients with ALS. I am modelling neurodegenerative diseases in a dish using 2D multicellular cultures (neurons, astrocytes and microglia) and 3D organoids and screening for compounds to rescue disease-associated phenotypes. I am interested in molecular pathways involving mitochondrial function, apoptosis, lysosome/autophagy, proteostasis, lipid dysregulation and intracellular transport.Publications
2025
The Differential Effects of Genetic Mutations in ALS and FTD Genes on Behavioural and Cognitive Changes: A Systematic Review and Meta-AnalysisJiménez-García AM, Tortorella ME, Nishimura AL, Arias N
International Journal of Molecular Sciences, Mdpi Ag vol. 26 (13), 6199-6199.
27-06-2025
2024
Editorial: Mechanisms of neurodegeneration in amyotrophic lateral sclerosis and related disordersOliveira D, Nishimura AL
Frontiers in Cellular Neuroscience, Frontiers Media Sa vol. 18
05-12-2024
Reactive astrocytes secrete the chaperone HSPB1 to mediate neuroprotectionYang F, Beltran-Lobo P, Sung K, Goldrick C, Croft CL, Nishimura A, Hedges E, Mahiddine F et al.
Science Advances, American Association For The Advancement of Science (Aaas) vol. 10 (12)
22-03-2024
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neuronsShum C, Hedges EC, Allison J, Lee Y-B, Arias N, Cocks G, Chandran S, Ruepp M-D et al.
Stem Cell Reports, Elsevier Bv vol. 19 (2), 187-195.
01-02-2024
Editorial: Molecular mechanisms underlying C9orf72 neurodegeneration, volume IIGallo J-M, Nishimura A, Haapasalo A
Frontiers in Cellular Neuroscience, Frontiers Media Sa vol. 17
08-01-2024
2023
Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease ModellingHedges EC, Cocks G, Shaw CE, Nishimura AL
Genes, Mdpi Ag vol. 14 (5), 1108-1108.
18-05-2023
2022
Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementiaAging Cell, Wiley vol. 21 (2)
13-01-2022
2021
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decayGotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL et al.
Neurobiology of Aging, Elsevier Bv vol. 106, 1-6.
01-10-2021
ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cellsGadgil A, Walczak A, Stępień A, Mechtersheimer J, Nishimura AL, Shaw CE, Ruepp M-D, Raczyńska KD
Scientific Reports, Springer Science and Business Media Llc vol. 11 (1)
04-06-2021
Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat ExpansionNishimura AL, Arias N
Frontiers in Cellular Neuroscience, Frontiers Media Sa vol. 15
01-06-2021
Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11Hedges EC, Topp S, Shaw CE, Nishimura AL
Stem Cell Research, Elsevier Bv vol. 52, 102246-102246.
01-04-2021
2020
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicityLee Y-B, Baskaran P, Gomez-Deza J, Chen H-J, Nishimura AL, Smith BN, Troakes C, Adachi Y et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 30 (3-4), 318-320.
04-09-2020
2018
ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase functionde Majo M, Topp SD, Smith BN, Nishimura AL, Chen H-J, Gkazi AS, Miller J, Wong CH et al.
Neurobiology of Aging, Elsevier Bv vol. 71, 266.e1-266.e10.
01-11-2018
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicitySelvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB et al.
Nature Communications, Springer Science and Business Media Llc vol. 9 (1)
24-01-2018
2017
C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicityLee Y-B, Baskaran P, Gomez-Deza J, Chen H-J, Nishimura AL, Smith BN, Troakes C, Adachi Y et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 26 (24), 4765-4777.
13-09-2017
2016
Exploring the use of antisense oligonucleotides as therapy for C9ORF72-linked amyotrophic lateral sclerosisGomez-Deza J, Lee YB, Nishimura A, Greig JS, Gallo JM, Shaw CE
European Neuropsychopharmacology, Elsevier Bv vol. 26, S653-S654.
01-10-2016
The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosisChen H-J, Mitchell JC, Novoselov S, Miller J, Nishimura AL, Scotter EL, Vance CA, Cheetham ME et al.
Brain, Oxford University Press (Oup) vol. 139 (5), 1417-1432.
01-03-2016
The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative MedicineHedges EC, Mehler VJ, Nishimura AL
Stem Cells International, Wiley vol. 2016 (1)
01-01-2016
2015
iPS Cells and Spinocerebellar AtaxiaShum C, Nishimura AL
In Stem Cell Biology and Regenerative Medicine, Springer International Publishing 45-61.
01-01-2015
2014
Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem CellsNishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee Y-B, Chen H-J et al.
Plos One, Public Library of Science (Plos) vol. 9 (3), e91269-e91269.
20-03-2014
Differential roles of the ubiquitin proteasome system (UPS) and autophagy in the clearance of soluble and aggregated TDP-43 speciesScotter EL, Vance C, Nishimura AL, Lee Y-B, Chen H-J, Urwin H, Sardone V, Mitchell JC et al.
Journal of Cell Science, The Company of Biologists
01-01-2014
2013
Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are NeurotoxicLee Y-B, Chen H-J, Peres JN, Gomez-Deza J, Attig J, Štalekar M, Troakes C, Nishimura AL et al.
Cell Reports, Elsevier Bv vol. 5 (5), 1178-1186.
01-12-2013
Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 MutationsZhang Z, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, Wu B, Karydas AM et al.
Plos One, Public Library of Science (Plos) vol. 8 (10), e76055-e76055.
15-10-2013
Expanded G4C2 repeats linked to C9ORF72ALS and FTD form length-dependent RNA foci, sequester RNA binding proteins and are neurotoxicLee Y-B, Chen H-J, Peres JN, Gomez J, Sardone V, Nishimura AL, Scotter E, Vance C et al.
Molecular Neurodegeneration, Springer Science and Business Media Llc vol. 8 (S1)
01-09-2013
Comment on “Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells”Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA et al.
Science Translational Medicine, American Association For The Advancement of Science (Aaas) vol. 5 (188)
05-06-2013
ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granulesVance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C et al.
Human Molecular Genetics, Oxford University Press (Oup) vol. 22 (13), 2676-2688.
07-03-2013
Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathySerio A, Bilican B, Barmada SJ, Ando DM, Zhao C, Siller R, Burr K, Haghi G et al.
Proceedings of The National Academy of Sciences, Proceedings of The National Academy of Sciences vol. 110 (12), 4697-4702.
11-02-2013
2012
FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMAYamazaki T, Chen S, Yu Y, Yan B, Haertlein TC, Carrasco MA, Tapia JC, Zhai B et al.
Cell Reports, Elsevier Bv vol. 2 (4), 799-806.
01-10-2012
Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerabilityBilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA et al.
Proceedings of The National Academy of Sciences, Proceedings of The National Academy of Sciences vol. 109 (15), 5803-5808.
26-03-2012
2011
Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disordersHortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S et al.
Acta Neuropathologica, Springer Science and Business Media Llc vol. 121 (4), 519-527.
01-03-2011
Characterizing the RNA targets and position-dependent splicing regulation by TDP-43Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T et al.
Nature Neuroscience, Springer Science and Business Media Llc vol. 14 (4), 452-458.
27-02-2011
2010
Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degenerationNishimura AL, Župunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo J, Hortobágyi T et al.
Brain, Oxford University Press (Oup) vol. 133 (6), 1763-1771.
14-05-2010
The p.P56S mutation in the VAPB gene is not due to a single founder: the first European caseFunke AD, Esser M, Krüttgen A, Weis J, Mitne‐Neto M, Lazar M, Nishimura AL, Sperfeld AD et al.
Clinical Genetics, Wiley vol. 77 (3), 302-303.
23-02-2010
2009
Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysisFukumoto N, Fujii T, Combarros O, Kamboh MI, Tsai S, Matsushita S, Nacmias B, Comings DE et al.
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Wiley vol. 153B (1), 235-242.
21-12-2009
The human serotonin transporter gene explains why some populations are more optimistic?Nishimura AL, Oliveira JRM, Zatz M
Molecular Psychiatry, Springer Science and Business Media Llc vol. 14 (9), 828-828.
21-08-2009
Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B et al.
Science, American Association For The Advancement of Science (Aaas) vol. 323 (5918), 1208-1211.
27-02-2009
2008
The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique PopulationOliveira JRM, Nishimura AL, Lemos RR, Zatz M
Journal of Molecular Neuroscience, Springer Science and Business Media Llc vol. 37 (1), 74-79.
08-07-2008
2007
A mutation in human VAP-B–MSP domain, present in ALS patients, affects the interaction with other cellular proteinsMitne-Neto M, Ramos CRR, Pimenta DC, Luz JS, Nishimura AL, Gonzales FA, Oliveira CC, Zatz M
Protein Expression and Purification, Elsevier Bv vol. 55 (1), 139-146.
01-09-2007
2005
A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian populationNishimura AL, Al-Chalabi A, Zatz M
Human Genetics, Springer Science and Business Media Llc vol. 118 (3-4), 499-500.
27-09-2005
Association of MAO A polymorphism and alcoholism in Brazilian femalesGuindalini C, Scivoletto S, Ferreira RGM, Nishimura A, Zilberman ML, Peluso MLM, Zatz M
Psychiatric Genetics, Ovid Technologies (Wolters Kluwer Health) vol. 15 (2), 141-144.
01-06-2005
Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13Macedo‐Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AMM et al.
Annals of Neurology, Wiley vol. 57 (5), 730-737.
25-04-2005
Monoamine Oxidase A Polymorphism in Brazilian Patients: Risk Factor for Late-Onset Alzheimer's Disease?Nishimura AL, Guindalini C, Oliveira JRM, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M
Journal of Molecular Neuroscience, Springer Science and Business Media Llc vol. 27 (2), 213-218.
01-01-2005
2004
A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral SclerosisNishimura AL, Mitne-Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM et al.
The American Journal of Human Genetics, Elsevier Bv vol. 75 (5), 822-831.
01-11-2004
A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13Nishimura AL
Journal of Medical Genetics, Bmj vol. 41 (4), 315-320.
01-04-2004
A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21Takata RI
Journal of Medical Genetics, Bmj vol. 41 (3), 224-229.
01-03-2004
Analysis of IL-1α, IL-1β, and IL-RA Polymorphisms in DysthymiaFertuzinhos SMM, Oliveira JRM, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M
Journal of Molecular Neuroscience, Springer Science and Business Media Llc vol. 22 (3), 251-256.
01-01-2004
Lack of Association Between the Brain-Derived Neurotrophin Factor (C-270T) Polymorphism and Late-Onset Alzheimer's Disease (LOAD) in Brazilian PatientsNishimura AL, Oliveira JRM, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA et al.
Journal of Molecular Neuroscience, Springer Science and Business Media Llc vol. 22 (3), 257-260.
01-01-2004
2001
Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 GeneSchwartzman JS, Bernardino A, Nishimura A, Gomes RR, Zatz M
Neuropediatrics, Georg Thieme Verlag Kg vol. 32 (3), 162-164.
01-06-2001
No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patientsNishimura AL, Oliveira JRM, Otto PA, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M
Journal of Neural Transmission, Springer Science and Business Media Llc vol. 108 (3), 305-310.
20-03-2001
2000
Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patientsNishimura AL, Oliveira JRM, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M
Molecular Psychiatry, Springer Science and Business Media Llc vol. 5 (5), 563-566.
01-09-2000
Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorderOliveira JRM, Carvalho DR, Pontual D, Gallindo RM, Sougey EB, Gentil V, Lafer B, Maia LGS et al.
Molecular Psychiatry, Springer Science and Business Media Llc vol. 5 (4), 348-349.
30-06-2000
Grants
Grants of specific relevance to Predictive in vitro ModelsInvestigating lipid dysregulation in ALS derived stem cell linesAgnes Nishimura
£254,101 MNDA Motor Neurone Disease Association
01-09-2024 - 31-08-2027
A stem cell research approach to elucidate the molecular mechanisms underlying heterogeneity of outcome in traumatic brain injuryAgnes Nishimura, Adina Michael-Titus and Christopher Uff
£74,845 Barts and the London Charity
04-09-2023 - 03-09-2025