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Mis-spliced transcripts generate de novo proteins in TDP-43-related ALS/FTD.
Seddighi S, Qi YA, Brown AL, Wilkins OG, Bereda C, Belair C, Zhang YJ, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Kargbo-Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Sacramento EK, Shah SI, Nalls MA, Colón-Mercado JM, Reyes JF, Ryan VH, Nelson MP, Cook CN, Li Z, Screven L, Kwan JY, Mehta PR, Zanovello M, Hallegger M, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff NP, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Reich DS, Rohrer JD, Malaspina A, Dickson DW, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: li z. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467
TMEM106B core deposition associates with TDP-43 pathology and is increased in risk SNP carriers for frontotemporal dementia.
Marks JD, Ayuso VE, Carlomagno Y, Yue M, Todd TW, Hao Y, Li Z, McEachin ZT, Shantaraman A, Duong DM, Daughrity LM, Jansen-West K, Shao W, Calliari A, Bejarano JG, DeTure M, Rawlinson B, Casey MC, Lilley MT, Donahue MH, Jawahar VM, Boeve BF, Petersen RC, Knopman DS, Oskarsson B, Graff-Radford NR, Wszolek ZK, Dickson DW, Josephs KA, Qi YA, Seyfried NT, Ward ME, Zhang YJ, Prudencio M, Petrucelli L, Cook CN. Marks JD, et al. Among authors: li z. Sci Transl Med. 2024 Jan 17;16(730):eadf9735. doi: 10.1126/scitranslmed.adf9735. Epub 2024 Jan 17. Sci Transl Med. 2024. PMID: 38232138 Free PMC article.
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