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107 results

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Page 1
TDP-43 represses cryptic exon inclusion in the FTD-ALS gene UNC13A.
Ma XR, Prudencio M, Koike Y, Vatsavayai SC, Kim G, Harbinski F, Briner A, Rodriguez CM, Guo C, Akiyama T, Schmidt HB, Cummings BB, Wyatt DW, Kurylo K, Miller G, Mekhoubad S, Sallee N, Mekonnen G, Ganser L, Rubien JD, Jansen-West K, Cook CN, Pickles S, Oskarsson B, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Dickson DW, Shorter J, Myong S, Green EM, Seeley WW, Petrucelli L, Gitler AD. Ma XR, et al. Among authors: cook cn. Nature. 2022 Mar;603(7899):124-130. doi: 10.1038/s41586-022-04424-7. Epub 2022 Feb 23. Nature. 2022. PMID: 35197626 Free PMC article.
C9orf72 poly(GR) aggregation induces TDP-43 proteinopathy.
Cook CN, Wu Y, Odeh HM, Gendron TF, Jansen-West K, Del Rosso G, Yue M, Jiang P, Gomes E, Tong J, Daughrity LM, Avendano NM, Castanedes-Casey M, Shao W, Oskarsson B, Tomassy GS, McCampbell A, Rigo F, Dickson DW, Shorter J, Zhang YJ, Petrucelli L. Cook CN, et al. Sci Transl Med. 2020 Sep 2;12(559):eabb3774. doi: 10.1126/scitranslmed.abb3774. Sci Transl Med. 2020. PMID: 32878979 Free PMC article.
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: cook cn. Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162. Epub 2024 Feb 14. Sci Transl Med. 2024. PMID: 38277467 Free PMC article.
Homotypic fibrillization of TMEM106B across diverse neurodegenerative diseases.
Chang A, Xiang X, Wang J, Lee C, Arakhamia T, Simjanoska M, Wang C, Carlomagno Y, Zhang G, Dhingra S, Thierry M, Perneel J, Heeman B, Forgrave LM, DeTure M, DeMarco ML, Cook CN, Rademakers R, Dickson DW, Petrucelli L, Stowell MHB, Mackenzie IRA, Fitzpatrick AWP. Chang A, et al. Among authors: cook cn. Cell. 2022 Apr 14;185(8):1346-1355.e15. doi: 10.1016/j.cell.2022.02.026. Epub 2022 Mar 4. Cell. 2022. PMID: 35247328 Free PMC article.
Two FTD-ALS genes converge on the endosomal pathway to induce TDP-43 pathology and degeneration.
Shao W, Todd TW, Wu Y, Jones CY, Tong J, Jansen-West K, Daughrity LM, Park J, Koike Y, Kurti A, Yue M, Castanedes-Casey M, Del Rosso G, Dunmore JA, Zanetti Alepuz D, Oskarsson B, Dickson DW, Cook CN, Prudencio M, Gendron TF, Fryer JD, Zhang YJ, Petrucelli L. Shao W, et al. Among authors: cook cn. Science. 2022 Oct 7;378(6615):94-99. doi: 10.1126/science.abq7860. Epub 2022 Oct 6. Science. 2022. PMID: 36201573 Free PMC article.
Endolysosomal dysfunction impairs proteostasis and induces neurodegeneration in vivo.
Shao W, Albagli EA, Jansen-West K, Daughrity LM, Tong J, Hysi A, Jiang P, Todd TW, Lee E, Alepuz DZ, Carlomagno Y, Yue M, Dunmore JA, Castanedes-Casey M, Otero PC, Kurti A, Prudencio M, Cook CN, Dickson DW, Gendron TF, Petrucelli L, Zhang YJ. Shao W, et al. Among authors: cook cn. iScience. 2025 Aug 27;28(10):113460. doi: 10.1016/j.isci.2025.113460. eCollection 2025 Oct 17. iScience. 2025. PMID: 41169507 Free PMC article.
Development and characterization of phospho-ubiquitin antibodies to monitor PINK1-PRKN signaling in cells and tissue.
Watzlawik JO, Hou X, Richardson T, Lewicki SL, Siuda J, Wszolek ZK, Cook CN, Petrucelli L, DeTure M, Dickson DW, Antico O, Muqit MMK, Fishman JB, Pirani K, Kumaran R, Polinski NK, Fiesel FC, Springer W. Watzlawik JO, et al. Among authors: cook cn. Autophagy. 2024 Sep;20(9):2076-2091. doi: 10.1080/15548627.2024.2356490. Epub 2024 May 27. Autophagy. 2024. PMID: 38802071 Free PMC article.
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: cook cn. 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.
TMEM106B is a selective modulator of TDP-43 pathology in Alzheimer's disease.
Reeves MM, Calliari A, Todd TW, Maroto Cidfuentes C, Jansen-West K, Yue M, Song Y, Dunmore J, Rawlinson B, Engelberg-Cook E, DeTure M, Day GS, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Cook CN, Murray ME, Dickson DW, Josephs KA, Petrucelli L, Prudencio M. Reeves MM, et al. Among authors: cook cn. Alzheimers Dement. 2026 Sep;22(9):e71713. doi: 10.1002/alz.71713. Alzheimers Dement. 2026. PMID: 42720122 Free PMC article.
107 results