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Items: 32

1.

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function.

de Majo M, Topp SD, Smith BN, Nishimura AL, Chen HJ, Gkazi AS, Miller J, Wong CH, Vance C, Baas F, Ten Asbroek ALMA, Kenna KP, Ticozzi N, Redondo AG, Esteban-Pérez J, Tiloca C, Verde F, Duga S, Morrison KE, Shaw PJ, Kirby J, Turner MR, Talbot K, Hardiman O, Glass JD, de Belleroche J, Gellera C, Ratti A, Al-Chalabi A, Brown RH, Silani V, Landers JE, Shaw CE.

Neurobiol Aging. 2018 Nov;71:266.e1-266.e10. doi: 10.1016/j.neurobiolaging.2018.06.015. Epub 2018 Jun 25.

2.

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity.

Selvaraj BT, Livesey MR, Zhao C, Gregory JM, James OT, Cleary EM, Chouhan AK, Gane AB, Perkins EM, Dando O, Lillico SG, Lee YB, Nishimura AL, Poreci U, Thankamony S, Pray M, Vasistha NA, Magnani D, Borooah S, Burr K, Story D, McCampbell A, Shaw CE, Kind PC, Aitman TJ, Whitelaw CBA, Wilmut I, Smith C, Miles GB, Hardingham GE, Wyllie DJA, Chandran S.

Nat Commun. 2018 Jan 24;9(1):347. doi: 10.1038/s41467-017-02729-0.

3.

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity.

Lee YB, Baskaran P, Gomez-Deza J, Chen HJ, Nishimura AL, Smith BN, Troakes C, Adachi Y, Stepto A, Petrucelli L, Gallo JM, Hirth F, Rogelj B, Guthrie S, Shaw CE.

Hum Mol Genet. 2017 Dec 15;26(24):4765-4777. doi: 10.1093/hmg/ddx350.

4.

The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine.

Hedges EC, Mehler VJ, Nishimura AL.

Stem Cells Int. 2016;2016:9279516. doi: 10.1155/2016/9279516. Epub 2016 Feb 7. Review.

5.

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis.

Chen HJ, Mitchell JC, Novoselov S, Miller J, Nishimura AL, Scotter EL, Vance CA, Cheetham ME, Shaw CE.

Brain. 2016 May;139(Pt 5):1417-32. doi: 10.1093/brain/aww028. Epub 2016 Mar 1.

6.

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells.

Nishimura AL, Shum C, Scotter EL, Abdelgany A, Sardone V, Wright J, Lee YB, Chen HJ, Bilican B, Carrasco M, Maniatis T, Chandran S, Rogelj B, Gallo JM, Shaw CE.

PLoS One. 2014 Mar 20;9(3):e91269. doi: 10.1371/journal.pone.0091269. eCollection 2014.

7.

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species.

Scotter EL, Vance C, Nishimura AL, Lee YB, Chen HJ, Urwin H, Sardone V, Mitchell JC, Rogelj B, Rubinsztein DC, Shaw CE.

J Cell Sci. 2014 Mar 15;127(Pt 6):1263-78. doi: 10.1242/jcs.140087. Epub 2014 Jan 14.

8.

Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic.

Lee YB, Chen HJ, Peres JN, Gomez-Deza J, Attig J, Stalekar M, Troakes C, Nishimura AL, Scotter EL, Vance C, Adachi Y, Sardone V, Miller JW, Smith BN, Gallo JM, Ule J, Hirth F, Rogelj B, Houart C, Shaw CE.

Cell Rep. 2013 Dec 12;5(5):1178-86. doi: 10.1016/j.celrep.2013.10.049. Epub 2013 Nov 27.

9.

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations.

Zhang Z, Almeida S, Lu Y, Nishimura AL, Peng L, Sun D, Wu B, Karydas AM, Tartaglia MC, Fong JC, Miller BL, Farese RV Jr, Moore MJ, Shaw CE, Gao FB.

PLoS One. 2013 Oct 15;8(10):e76055. doi: 10.1371/journal.pone.0076055. eCollection 2013.

10.

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, Story D, Fletcher J, Park IH, Friedman BA, Daley GQ, Wyllie DJ, Hardingham GE, Wilmut I, Finkbeiner S, Maniatis T, Shaw CE, Chandran S.

Sci Transl Med. 2013 Jun 5;5(188):188le2. doi: 10.1126/scitranslmed.3005065.

11.

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules.

Vance C, Scotter EL, Nishimura AL, Troakes C, Mitchell JC, Kathe C, Urwin H, Manser C, Miller CC, Hortobágyi T, Dragunow M, Rogelj B, Shaw CE.

Hum Mol Genet. 2013 Jul 1;22(13):2676-88. doi: 10.1093/hmg/ddt117. Epub 2013 Mar 7.

12.

Astrocyte pathology and the absence of non-cell autonomy in an induced pluripotent stem cell model of TDP-43 proteinopathy.

Serio A, Bilican B, Barmada SJ, Ando DM, Zhao C, Siller R, Burr K, Haghi G, Story D, Nishimura AL, Carrasco MA, Phatnani HP, Shum C, Wilmut I, Maniatis T, Shaw CE, Finkbeiner S, Chandran S.

Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4697-702. doi: 10.1073/pnas.1300398110. Epub 2013 Feb 11.

13.

FUS-SMN protein interactions link the motor neuron diseases ALS and SMA.

Yamazaki T, Chen S, Yu Y, Yan B, Haertlein TC, Carrasco MA, Tapia JC, Zhai B, Das R, Lalancette-Hebert M, Sharma A, Chandran S, Sullivan G, Nishimura AL, Shaw CE, Gygi SP, Shneider NA, Maniatis T, Reed R.

Cell Rep. 2012 Oct 25;2(4):799-806. doi: 10.1016/j.celrep.2012.08.025. Epub 2012 Sep 27.

14.

Mutant induced pluripotent stem cell lines recapitulate aspects of TDP-43 proteinopathies and reveal cell-specific vulnerability.

Bilican B, Serio A, Barmada SJ, Nishimura AL, Sullivan GJ, Carrasco M, Phatnani HP, Puddifoot CA, Story D, Fletcher J, Park IH, Friedman BA, Daley GQ, Wyllie DJ, Hardingham GE, Wilmut I, Finkbeiner S, Maniatis T, Shaw CE, Chandran S.

Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5803-8. doi: 10.1073/pnas.1202922109. Epub 2012 Mar 26.

15.

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders.

Hortobágyi T, Troakes C, Nishimura AL, Vance C, van Swieten JC, Seelaar H, King A, Al-Sarraj S, Rogelj B, Shaw CE.

Acta Neuropathol. 2011 Apr;121(4):519-27. doi: 10.1007/s00401-011-0813-3. Epub 2011 Mar 1.

PMID:
21360076
16.

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43.

Tollervey JR, Curk T, Rogelj B, Briese M, Cereda M, Kayikci M, König J, Hortobágyi T, Nishimura AL, Zupunski V, Patani R, Chandran S, Rot G, Zupan B, Shaw CE, Ule J.

Nat Neurosci. 2011 Apr;14(4):452-8. doi: 10.1038/nn.2778. Epub 2011 Feb 27.

17.

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration.

Nishimura AL, Zupunski V, Troakes C, Kathe C, Fratta P, Howell M, Gallo JM, Hortobágyi T, Shaw CE, Rogelj B.

Brain. 2010 Jun;133(Pt 6):1763-71. doi: 10.1093/brain/awq111. Epub 2010 May 14.

PMID:
20472655
18.

The p.P56S mutation in the VAPB gene is not due to a single founder: the first European case.

Funke AD, Esser M, Krüttgen A, Weis J, Mitne-Neto M, Lazar M, Nishimura AL, Sperfeld AD, Trillenberg P, Senderek J, Krasnianski M, Zatz M, Zierz S, Deschauer M.

Clin Genet. 2010 Mar;77(3):302-3. doi: 10.1111/j.1399-0004.2009.01319.x. No abstract available.

19.

The human serotonin transporter gene explains why some populations are more optimistic?

Nishimura AL, Oliveira JR, Zatz M.

Mol Psychiatry. 2009 Sep;14(9):828. doi: 10.1038/mp.2009.48. No abstract available.

PMID:
19696769
20.

Sexually dimorphic effect of the Val66Met polymorphism of BDNF on susceptibility to Alzheimer's disease: New data and meta-analysis.

Fukumoto N, Fujii T, Combarros O, Kamboh MI, Tsai SJ, Matsushita S, Nacmias B, Comings DE, Arboleda H, Ingelsson M, Hyman BT, Akatsu H, Grupe A, Nishimura AL, Zatz M, Mattila KM, Rinne J, Goto Y, Asada T, Nakamura S, Kunugi H.

Am J Med Genet B Neuropsychiatr Genet. 2010 Jan 5;153B(1):235-42. doi: 10.1002/ajmg.b.30986.

PMID:
19504537
21.

Mutations in FUS, an RNA processing protein, cause familial amyotrophic lateral sclerosis type 6.

Vance C, Rogelj B, Hortobágyi T, De Vos KJ, Nishimura AL, Sreedharan J, Hu X, Smith B, Ruddy D, Wright P, Ganesalingam J, Williams KL, Tripathi V, Al-Saraj S, Al-Chalabi A, Leigh PN, Blair IP, Nicholson G, de Belleroche J, Gallo JM, Miller CC, Shaw CE.

Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942.

22.

The genetics of Alzheimer's disease in Brazil: 10 years of analysis in a unique population.

Oliveira JR, Nishimura AL, Lemos RR, Zatz M.

J Mol Neurosci. 2009 Jan;37(1):74-9. doi: 10.1007/s12031-008-9124-0. Epub 2008 Jul 8.

PMID:
18607773
23.

A mutation in human VAP-B--MSP domain, present in ALS patients, affects the interaction with other cellular proteins.

Mitne-Neto M, Ramos CR, Pimenta DC, Luz JS, Nishimura AL, Gonzales FA, Oliveira CC, Zatz M.

Protein Expr Purif. 2007 Sep;55(1):139-46. Epub 2007 Apr 20.

PMID:
17540579
24.

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population.

Nishimura AL, Al-Chalabi A, Zatz M.

Hum Genet. 2005 Dec;118(3-4):499-500. Epub 2005 Sep 27.

PMID:
16187141
25.

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

Nishimura AL, Guindalini C, Oliveira JR, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M.

J Mol Neurosci. 2005;27(2):213-7.

PMID:
16186632
26.

A mutation in the vesicle-trafficking protein VAPB causes late-onset spinal muscular atrophy and amyotrophic lateral sclerosis.

Nishimura AL, Mitne-Neto M, Silva HC, Richieri-Costa A, Middleton S, Cascio D, Kok F, Oliveira JR, Gillingwater T, Webb J, Skehel P, Zatz M.

Am J Hum Genet. 2004 Nov;75(5):822-31. Epub 2004 Sep 15.

27.

A novel locus for late onset amyotrophic lateral sclerosis/motor neurone disease variant at 20q13.

Nishimura AL, Mitne-Neto M, Silva HC, Oliveira JR, Vainzof M, Zatz M.

J Med Genet. 2004 Apr;41(4):315-20. No abstract available.

28.

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients.

Nishimura AL, Oliveira JR, Mitne-Neto M, Guindalini C, Nitrini R, Bahia VS, de Brito-Marques PR, Otto PA, Zatz M.

J Mol Neurosci. 2004;22(3):257-60.

PMID:
14997020
29.

Analysis of IL-1alpha, IL-1beta, and IL-1RA [correction of IL-RA] polymorphisms in dysthymia.

Fertuzinhos SM, Oliveira JR, Nishimura AL, Pontual D, Carvalho DR, Sougey EB, Otto PA, Zatz M.

J Mol Neurosci. 2004;22(3):251-6.

PMID:
14997019
30.

A new locus for recessive distal spinal muscular atrophy at Xq13.1-q21.

Takata RI, Speck Martins CE, Passosbueno MR, Abe KT, Nishimura AL, Da Silva MD, Monteiro A Jr, Lima MI, Kok F, Zatz M.

J Med Genet. 2004 Mar;41(3):224-9. No abstract available.

31.

No evidence of association between the D10S1423 locus and Alzheimer disease in Brazilian patients.

Nishimura AL, Oliveira JR, Otto PA, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M.

J Neural Transm (Vienna). 2001;108(3):305-10.

PMID:
11341482
32.

Analysis of the disease risk locus DXS1047 polymorphism in Brazilian Alzheimer patients.

Nishimura AL, Oliveira JR, Matioli SR, Brito-Marques PR, Bahia VS, Nitrini R, Zatz M.

Mol Psychiatry. 2000 Sep;5(5):563-6.

PMID:
11032393

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