Publications: Dr Agnes Lumi Nishimura

Yang F, Beltran-Lobo P, Sung K, Goldrick C, Croft CL, Nishimura A, Hedges E, Mahiddine F et al. ( 2024 ) . Reactive astrocytes secrete the chaperone HSPB1 to mediate neuroprotection . Science Advances vol. 10 , ( 12 )

Shum C, Erin CH, Joseph A, Youn-bok L, Natalia A, Graham C, Siddharthan C, Marc-David R et al. ( 2024 ) . Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons . Stem Cell Reports

Hedges EC, Cocks G, Shaw CE, Nishimura AL ( 2023 ) . Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling . Genes vol. 14 , ( 5 )

Gomez‐Suaga P, Mórotz GM, Markovinovic A, Martín‐Guerrero SM, Preza E, Arias N, Mayl K, Aabdien A et al. ( 2022 ) . Disruption of ER‐mitochondria tethering and signalling in C9orf72‐associated amyotrophic lateral sclerosis and frontotemporal dementia . Aging Cell vol. 21 , ( 2 )

Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL et al. ( 2021 ) . A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay . Neurobiology of Aging vol. 106 , 1 - 6 .

Gadgil A, Walczak A, Stępień A, Mechtersheimer J, Nishimura AL, Shaw CE, Ruepp M-D, Raczyńska KD ( 2021 ) . ALS-linked FUS mutants affect the localization of U7 snRNP and replication-dependent histone gene expression in human cells . Scientific Reports vol. 11 , ( 1 )

Nishimura AL, Arias N ( 2021 ) . Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion . Frontiers in Cellular Neuroscience vol. 15 ,

Hedges EC, Topp S, Shaw CE, Nishimura AL ( 2021 ) . Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11 . Stem Cell Research vol. 52 ,

Lee Y-B, Baskaran P, Gomez-Deza J, Chen H-J, Nishimura AL, Smith BN, Troakes C, Adachi Y et al. ( 2020 ) . C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity . Human Molecular Genetics vol. 30 , ( 3-4 ) 318 - 320 .

de Majo M, Topp SD, Smith BN, Nishimura AL, Chen H-J, Gkazi AS, Miller J, Wong CH et al. ( 2018 ) . ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function . Neurobiology of Aging vol. 71 , 266.e1 - 266.e10 .

Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB et al. ( 2018 ) . C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity . Nature Communications vol. 9 , ( 1 )

Lee Y-B, Baskaran P, Gomez-Deza J, Chen H-J, Nishimura AL, Smith BN, Troakes C, Adachi Y et al. ( 2017 ) . C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity . Human Molecular Genetics vol. 26 , ( 24 ) 4765 - 4777 .

Chen H-J, Mitchell JC, Novoselov S, Miller J, Nishimura AL, Scotter EL, Vance CA, Cheetham ME et al. ( 2016 ) . The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis . Brain vol. 139 , ( 5 ) 1417 - 1432 .

Hedges EC, Mehler VJ, Nishimura AL ( 2016 ) . The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine . Stem Cells International vol. 2016 , ( 1 )

Nishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee Y-B, Chen H-J et al. ( 2014 ) . Allele-Specific Knockdown of ALS-Associated Mutant TDP-43 in Neural Stem Cells Derived from Induced Pluripotent Stem Cells . PLOS ONE vol. 9 , ( 3 )

Scotter EL, Vance C, Nishimura AL, Lee Y-B, Chen H-J, Urwin H, Sardone V, Mitchell JC et al. ( 2014 ) . Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species . Journal of Cell Science vol. 127 , ( 6 ) 1263 - 1278 .

Lee Y-B, Chen H-J, Peres JN, Gomez-Deza J, Attig J, Štalekar M, Troakes C, Nishimura AL et al. ( 2013 ) . Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic . Cell Reports vol. 5 , ( 5 ) 1178 - 1186 .

Zhang Z, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, Wu B, Karydas AM et al. ( 2013 ) . Downregulation of MicroRNA-9 in iPSC-Derived Neurons of FTD/ALS Patients with TDP-43 Mutations . PLOS ONE vol. 8 , ( 10 )

Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA et al. ( 2013 ) . Comment on “Drug Screening for ALS Using Patient-Specific Induced Pluripotent Stem Cells” . Science Translational Medicine vol. 5 , ( 188 )

Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C et al. ( 2013 ) . ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules . Human Molecular Genetics vol. 22 , ( 13 ) 2676 - 2688 .

Serio A, Bilican B, Barmada SJ, Ando DM, Zhao C, Siller R, Burr K, Haghi G et al. ( 2013 ) . Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy . Proceedings of the National Academy of Sciences of the United States of America vol. 110 , ( 12 ) 4697 - 4702 .

Yamazaki T, Chen S, Yu Y, Yan B, Haertlein TC, Carrasco MA, Tapia JC, Zhai B et al. ( 2012 ) . FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA . Cell Reports vol. 2 , ( 4 ) 799 - 806 .

Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA et al. ( 2012 ) . Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability . Proceedings of the National Academy of Sciences of the United States of America vol. 109 , ( 15 ) 5803 - 5808 .

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S et al. ( 2011 ) . Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders . Acta Neuropathologica vol. 121 , ( 4 ) 519 - 527 .

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T et al. ( 2011 ) . Characterizing the RNA targets and position-dependent splicing regulation by TDP-43 . Nature Neuroscience vol. 14 , ( 4 ) 452 - 458 .

Nishimura AL, Župunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo J, Hortobágyi T et al. ( 2010 ) . Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration . Brain vol. 133 , ( 6 ) 1763 - 1771 .

Funke A, Esser M, Krüttgen A, Weis J, Mitne‐Neto M, Lazar M, Nishimura A, Sperfeld A et al. ( 2010 ) . The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case . Clinical Genetics vol. 77 , ( 3 ) 302 - 303 .

Fukumoto N, Fujii T, Combarros O, Kamboh MI, Tsai S, Matsushita S, Nacmias B, Comings DE et al. ( 2009 ) . Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta‐analysis . American Journal of Medical Genetics Part B Neuropsychiatric Genetics vol. 153B , ( 1 ) 235 - 242 .

Nishimura AL, Oliveira JRM, Zatz M ( 2009 ) . The human serotonin transporter gene explains why some populations are more optimistic? . Molecular Psychiatry vol. 14 , ( 9 ) 828 - 828 .

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B et al. ( 2009 ) . Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6 . Science vol. 323 , ( 5918 ) 1208 - 1211 .

Oliveira JRM, Nishimura AL, Lemos RR, Zatz M ( 2008 ) . The Genetics of Alzheimer’s Disease in Brazil: 10 Years of Analysis in a Unique Population . Journal of Molecular Neuroscience vol. 37 , ( 1 ) 74 - 79 .

Mitne-Neto M, Ramos CRR, Pimenta DC, Luz JS, Nishimura AL, Gonzales FA, Oliveira CC, Zatz M ( 2007 ) . A mutation in human VAP-B–MSP domain, present in ALS patients, affects the interaction with other cellular proteins . Protein Expression and Purification vol. 55 , ( 1 ) 139 - 146 .

Nishimura AL, Al-Chalabi A, Zatz M ( 2005 ) . A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population . Human Genetics vol. 118 , ( 3-4 ) 499 - 500 .

Guindalini C, Scivoletto S, Ferreira RGM, Nishimura A, Zilberman ML, Peluso MM, Zatz M ( 2005 ) . Association of MAO A polymorphism and alcoholism in Brazilian females . Psychiatric Genetics vol. 15 , ( 2 ) 141 - 144 .

Macedo‐Souza LI, Kok F, Santos S, Amorim SC, Starling A, Nishimura A, Lezirovitz K, Lino AMM et al. ( 2005 ) . Spastic paraplegia, optic atrophy, and neuropathy is linked to chromosome 11q13 . Annals of Neurology vol. 57 , ( 5 ) 730 - 737 .

Nishimura AL, Guindalini C, Oliveira JRM, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M ( 2005 ) . Monoamine oxidase a polymorphism in brazilian patients . Journal of Molecular Neuroscience vol. 27 , ( 2 ) 213 - 217 .

Nishimura AL, Mitne-Neto M, Silva HCA, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JRM et al. ( 2004 ) . A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis . American Journal of Human Genetics vol. 75 , ( 5 ) 822 - 831 .

Nishimura AL, Mitne-Neto M, Silva HCA, Oliveira JRM, Vainzof M, Zatz M ( 2004 ) . A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13 . Journal of Medical Genetics vol. 41 , ( 4 )

Takata RI, Martins CES, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A, Lima MI et al. ( 2004 ) . A new locus for recessive distal spinal muscular atrophy at Xq13.1–q21 . Journal of Medical Genetics vol. 41 , ( 3 )

Fertuzinhos SMM, Oliveira JRM, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M ( 2004 ) . Analysis of IL-1α, IL-1β, and IL-RA polymorphisms in dysthymia . Journal of Molecular Neuroscience vol. 22 , ( 3 ) 251 - 255 .

Nishimura AL, Oliveira JRM, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA et al. ( 2004 ) . Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer’s disease (LOAD) in Brazilian patients . Journal of Molecular Neuroscience vol. 22 , ( 3 ) 257 - 260 .

Schwartzman J, Bernardino A, Nishimura A, Gomes R, Zatz M ( 2001 ) . Rett Syndrome in a Boy with a 47,XXY Karyotype Confirmed by a Rare Mutation in the MECP2 Gene . Neuropediatrics vol. 32 , ( 3 ) 162 - 164 .

Nishimura AL, Oliveira JRM, Otto PA, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M ( 2001 ) . No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients . Journal of Neural Transmission vol. 108 , ( 3 ) 305 - 310 .

Nishimura AL, Oliveira JRM, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M ( 2000 ) . Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients . Molecular Psychiatry vol. 5 , ( 5 ) 563 - 566 .

Oliveira JRM, Carvalho DR, Pontual D, Gallindo RM, Sougey EB, Gentil V, Lafer B, Maia LGS et al. ( 2000 ) . Analysis of the serotonin transporter polymorphism (5-HTTLPR) in Brazilian patients affected by dysthymia, major depression and bipolar disorder . Molecular Psychiatry vol. 5 , ( 4 ) 348 - 349 .