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
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4777
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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
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1432
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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
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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
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1278
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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
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1186
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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
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2688
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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
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4702
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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
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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
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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
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1771
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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
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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
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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
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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
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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
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146
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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
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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
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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
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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
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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
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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
.