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Reduced C9ORF72 function exacerbates gain of toxicity from ALS/FTD-causing repeat expansion in C9orf72.
Zhu Q, Jiang J, Gendron TF, McAlonis-Downes M, Jiang L, Taylor A, Diaz Garcia S, Ghosh Dastidar S, Rodriguez MJ, King P, Zhang Y, La Spada AR, Xu H, Petrucelli L, Ravits J, Da Cruz S, Lagier-Tourenne C, Cleveland DW. Zhu Q, et al. Among authors: diaz garcia s. Nat Neurosci. 2020 May;23(5):615-624. doi: 10.1038/s41593-020-0619-5. Epub 2020 Apr 13. Nat Neurosci. 2020. PMID: 32284607 Free PMC article.
Transcriptome-pathology correlation identifies interplay between TDP-43 and the expression of its kinase CK1E in sporadic ALS.
Krach F, Batra R, Wheeler EC, Vu AQ, Wang R, Hutt K, Rabin SJ, Baughn MW, Libby RT, Diaz-Garcia S, Stauffer J, Pirie E, Saberi S, Rodriguez M, Madrigal AA, Kohl Z, Winner B, Yeo GW, Ravits J. Krach F, et al. Among authors: diaz garcia s. Acta Neuropathol. 2018 Sep;136(3):405-423. doi: 10.1007/s00401-018-1870-7. Epub 2018 Jun 7. Acta Neuropathol. 2018. PMID: 29881994 Free PMC article.
Antisense RNA foci are associated with nucleoli and TDP-43 mislocalization in C9orf72-ALS/FTD: a quantitative study.
Aladesuyi Arogundade O, Stauffer JE, Saberi S, Diaz-Garcia S, Malik S, Basilim H, Rodriguez MJ, Ohkubo T, Ravits J. Aladesuyi Arogundade O, et al. Among authors: diaz garcia s. Acta Neuropathol. 2019 Mar;137(3):527-530. doi: 10.1007/s00401-018-01955-0. Epub 2019 Jan 21. Acta Neuropathol. 2019. PMID: 30666413 Free PMC article. No abstract available.
Human genetics and neuropathology suggest a link between miR-218 and amyotrophic lateral sclerosis pathophysiology.
Reichenstein I, Eitan C, Diaz-Garcia S, Haim G, Magen I, Siany A, Hoye ML, Rivkin N, Olender T, Toth B, Ravid R, Mandelbaum AD, Yanowski E, Liang J, Rymer JK, Levy R, Beck G, Ainbinder E, Farhan SMK, Lennox KA, Bode NM, Behlke MA, Möller T, Saxena S, Moreno CAM, Costaguta G, van Eijk KR, Phatnani H, Al-Chalabi A, Başak AN, van den Berg LH, Hardiman O, Landers JE, Mora JS, Morrison KE, Shaw PJ, Veldink JH, Pfaff SL, Yizhar O, Gross C, Brown RH Jr, Ravits JM, Harms MB, Miller TM, Hornstein E. Reichenstein I, et al. Among authors: diaz garcia s. Sci Transl Med. 2019 Dec 18;11(523):eaav5264. doi: 10.1126/scitranslmed.aav5264. Sci Transl Med. 2019. PMID: 31852800 Free PMC article.
Cross-Comparison of Human iPSC Motor Neuron Models of Familial and Sporadic ALS Reveals Early and Convergent Transcriptomic Disease Signatures.
Ho R, Workman MJ, Mathkar P, Wu K, Kim KJ, O'Rourke JG, Kellogg M, Montel V, Banuelos MG, Arogundade OA, Diaz-Garcia S, Oheb D, Huang S, Khrebtukova I, Watson L, Ravits J, Taylor K, Baloh RH, Svendsen CN. Ho R, et al. Among authors: diaz garcia s. Cell Syst. 2021 Feb 17;12(2):159-175.e9. doi: 10.1016/j.cels.2020.10.010. Epub 2020 Dec 30. Cell Syst. 2021. PMID: 33382996 Free PMC article.
FUS-dependent microRNA deregulations identify TRIB2 as a druggable target for ALS motor neurons.
Ho WY, Chak LL, Hor JH, Liu F, Diaz-Garcia S, Chang JC, Sanford E, Rodriguez MJ, Alagappan D, Lim SM, Cho YL, Shimizu Y, Sun AX, Tyan SH, Koo E, Kim SH, Ravits J, Ng SY, Okamura K, Ling SC. Ho WY, et al. Among authors: diaz garcia s. iScience. 2023 Oct 6;26(11):108152. doi: 10.1016/j.isci.2023.108152. eCollection 2023 Nov 17. iScience. 2023. PMID: 37920668 Free PMC article.
12 results