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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. Vance C, et al. Among authors: nishimura al, al chalabi a, al saraj s. Science. 2009 Feb 27;323(5918):1208-1211. doi: 10.1126/science.1165942. Science. 2009. PMID: 19251628 Free PMC article.
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. Bilican B, et al. Among authors: nishimura al. Proc Natl Acad Sci U S A. 2012 Apr 10;109(15):5803-8. doi: 10.1073/pnas.1202922109. Epub 2012 Mar 26. Proc Natl Acad Sci U S A. 2012. PMID: 22451909 Free PMC article.
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. Yamazaki T, et al. Among authors: nishimura al. Cell Rep. 2012 Oct 25;2(4):799-806. doi: 10.1016/j.celrep.2012.08.025. Epub 2012 Sep 27. Cell Rep. 2012. PMID: 23022481 Free PMC article.
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. Serio A, et al. Among authors: nishimura al. Proc Natl Acad Sci U S A. 2013 Mar 19;110(12):4697-702. doi: 10.1073/pnas.1300398110. Epub 2013 Feb 11. Proc Natl Acad Sci U S A. 2013. PMID: 23401527 Free PMC article.
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. Bilican B, et al. Among authors: nishimura al. Sci Transl Med. 2013 Jun 5;5(188):188le2. doi: 10.1126/scitranslmed.3005065. Sci Transl Med. 2013. PMID: 23740897 Free PMC article.
Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons.
Shum C, Hedges EC, Allison J, Lee YB, Arias N, Cocks G, Chandran S, Ruepp MD, Shaw CE, Nishimura AL. Shum C, et al. Among authors: nishimura al. Stem Cell Reports. 2024 Feb 13;19(2):187-195. doi: 10.1016/j.stemcr.2023.12.007. Epub 2024 Jan 18. Stem Cell Reports. 2024. PMID: 38242131 Free PMC article.
A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay.
Gotkine M, de Majo M, Wong CH, Topp SD, Michaelson-Cohen R, Epsztejn-Litman S, Eiges R, Y YL, Kanaan M, Shaked HM, Alahmady N, Vance C, Newhouse SJ, Breen G, Nishimura AL, Shaw CE, Smith BN. Gotkine M, et al. Among authors: nishimura al. Neurobiol Aging. 2021 Oct;106:351.e1-351.e6. doi: 10.1016/j.neurobiolaging.2021.05.009. Epub 2021 Jun 4. Neurobiol Aging. 2021. PMID: 34272080
39 results