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ALS-associated mutation FUS-R521C causes DNA damage and RNA splicing defects.
Qiu H, Lee S, Shang Y, Wang WY, Au KF, Kamiya S, Barmada SJ, Finkbeiner S, Lui H, Carlton CE, Tang AA, Oldham MC, Wang H, Shorter J, Filiano AJ, Roberson ED, Tourtellotte WG, Chen B, Tsai LH, Huang EJ. Qiu H, et al. Among authors: barmada sj. J Clin Invest. 2021 Apr 1;131(7):e149564. doi: 10.1172/JCI149564. J Clin Invest. 2021. PMID: 33792567 Free PMC article. No abstract available.
Neuronal Puncta/Aggregate Formation by WT and Mutant UBQLN2.
Safren N, Sharkey LM, Barmada SJ. Safren N, et al. Among authors: barmada sj. Methods Mol Biol. 2023;2551:561-573. doi: 10.1007/978-1-0716-2597-2_34. Methods Mol Biol. 2023. PMID: 36310225 Free PMC article.
The MLO-down on TDP-43.
Dykstra M, Barmada SJ. Dykstra M, et al. Among authors: barmada sj. Brain. 2023 Sep 1;146(9):3565-3567. doi: 10.1093/brain/awad268. Brain. 2023. PMID: 37540028 Free PMC article.
Roadmap for C9ORF72 in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis: Report on the C9ORF72 FTD/ALS Summit.
Sattler R, Traynor BJ, Robertson J, Van Den Bosch L, Barmada SJ, Svendsen CN, Disney MD, Gendron TF, Wong PC, Turner MR, Boxer A, Babu S, Benatar M, Kurnellas M, Rohrer JD, Donnelly CJ, Bustos LM, Van Keuren-Jensen K, Dacks PA, Sabbagh MN; Attendees of the inaugural C9ORF72 FTD/ALS Summit. Sattler R, et al. Among authors: barmada sj. Neurol Ther. 2023 Dec;12(6):1821-1843. doi: 10.1007/s40120-023-00548-8. Epub 2023 Oct 17. Neurol Ther. 2023. PMID: 37847372 Free PMC article.
Counter-regulation of RNA stability by UPF1 and TDP43.
Gomez N, Hsieh C, Li X, Dykstra M, Waksmacki J, Altheim C, Bechar Y, Klim J, Zaepfel B, Rothstein J, Tank EE, Barmada SJ. Gomez N, et al. Among authors: barmada sj. bioRxiv [Preprint]. 2024 Feb 15:2024.01.31.578310. doi: 10.1101/2024.01.31.578310. bioRxiv. 2024. PMID: 38352350 Free PMC article. Preprint.
Ubiquilin-2 regulates pathological alpha-synuclein.
Sandoval-Pistorius SS, Gerson JE, Liggans N, Ryou JH, Oak K, Li X, Negron-Rios KY, Fischer S, Barsh H, Crowley EV, Skinner ME, Sharkey LM, Barmada SJ, Paulson HL. Sandoval-Pistorius SS, et al. Among authors: barmada sj. Sci Rep. 2023 Jan 6;13(1):293. doi: 10.1038/s41598-022-26899-0. Sci Rep. 2023. PMID: 36609661 Free PMC article.
AAGGG repeat expansions trigger RFC1-independent synaptic dysregulation in human CANVAS Neurons.
Maltby CJ, Krans A, Grudzien SJ, Palacios Y, Muiños J, Suárez A, Asher M, Khurana V, Barmada SJ, Dijkstra AA, Todd PK. Maltby CJ, et al. Among authors: barmada sj. bioRxiv [Preprint]. 2023 Dec 14:2023.12.13.571345. doi: 10.1101/2023.12.13.571345. bioRxiv. 2023. Update in: Sci Adv. 2024 Sep 6;10(36):eadn2321. doi: 10.1126/sciadv.adn2321 PMID: 38168171 Free PMC article. Updated. Preprint.
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