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65 results

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Page 1
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: secrier m. 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.
TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Kargbo-Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: secrier m. Nature. 2022 Mar;603(7899):131-137. doi: 10.1038/s41586-022-04436-3. Epub 2022 Feb 23. Nature. 2022. PMID: 35197628 Free PMC article.
Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: secrier m. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
Disentangling oncogenic amplicons in esophageal adenocarcinoma.
Ng AWT, McClurg DP, Wesley B, Zamani SA, Black E, Miremadi A, Giger O, Hoopen RT, Devonshire G, Redmond AM, Grehan N, Jammula S, Blasko A, Li X, Aparicio S, Tavaré S; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Nowicki-Osuch K, Fitzgerald RC. Ng AWT, et al. Nat Commun. 2024 May 14;15(1):4074. doi: 10.1038/s41467-024-47619-4. Nat Commun. 2024. PMID: 38744814 Free PMC article.
Mutational signature dynamics shaping the evolution of oesophageal adenocarcinoma.
Abbas S, Pich O, Devonshire G, Zamani SA, Katz-Summercorn A, Killcoyne S, Cheah C, Nutzinger B, Grehan N, Lopez-Bigas N; OCCAMS Consortium; Fitzgerald RC, Secrier M. Abbas S, et al. Among authors: secrier m. Nat Commun. 2023 Jul 15;14(1):4239. doi: 10.1038/s41467-023-39957-6. Nat Commun. 2023. PMID: 37454136 Free PMC article.
Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, Kargbo-Hill SE, Zanovello M, Lee WC, Bampton A, Lee FCY, Masino L, Qi YA, Bryce-Smith S, Gatt A, Hallegger M, Fagegaltier D, Phatnani H; NYGC ALS Consortium; Newcombe J, Gustavsson EK, Seddighi S, Reyes JF, Coon SL, Ramos D, Schiavo G, Fisher EMC, Raj T, Secrier M, Lashley T, Ule J, Buratti E, Humphrey J, Ward ME, Fratta P. Brown AL, et al. Among authors: secrier m. Nature. 2024 Jul;631(8020):E7. doi: 10.1038/s41586-024-07577-9. Nature. 2024. PMID: 38890465 Free PMC article. No abstract available.
TDP-43 loss induces cryptic polyadenylation in ALS/FTD.
Bryce-Smith S, Brown AL, Chien MZYJ, Dattilo D, Mehta PR, Mattedi F, Barattucci S, Mikheenko A, Zanovello M, Pellegrini F, El-Agamy SE, Yome M, Hill SE, Qi YA, Sun K, Ryadnov E, Wan Y; NYGC ALS Consortium; Vargas JNS, Birsa N, Raj T, Humphrey J, Keuss M, Wilkins OG, Ward M, Secrier M, Fratta P. Bryce-Smith S, et al. Among authors: secrier m. Nat Neurosci. 2025 Nov;28(11):2190-2200. doi: 10.1038/s41593-025-02050-w. Epub 2025 Oct 21. Nat Neurosci. 2025. PMID: 41120751 Free PMC article.
Context-dependent effects of CDKN2A and other 9p21 gene losses during the evolution of esophageal cancer.
Ganguli P, Basanta CC, Acha-Sagredo A, Misetic H, Armero M, Mendez A, Zahra A, Devonshire G, Kelly G, Freeman A, Green M, Nye E, Bichisecchi A, Bonfanti P; Oesophageal Cancer Clinical and Molecular Stratification (OCCAMS) Consortium; Rodriguez-Justo M, Spencer J, Fitzgerald RC, Ciccarelli FD. Ganguli P, et al. Nat Cancer. 2025 Jan;6(1):158-174. doi: 10.1038/s43018-024-00876-0. Epub 2025 Jan 3. Nat Cancer. 2025. PMID: 39753721 Free PMC article.
Cancer-associated fibroblasts are associated with neo-adjuvant treatment response in oesophageal adenocarcinoma.
Walker RC, Breininger SP, Sharpe BP, Harrington J, Reddin I, Tse C, Rajak R, Hayden A, Rahman S, Grace B, Izadi F, West J; OCCAMs Consortium; Secrier M, Walters ZS, Rose-Zerilli MJJ, Underwood TJ. Walker RC, et al. Among authors: secrier m. Br J Cancer. 2025 Sep;133(5):633-647. doi: 10.1038/s41416-025-03080-8. Epub 2025 Jul 10. Br J Cancer. 2025. PMID: 40640495 Free PMC article.
Identification of FasL as a crucial host factor driving COVID-19 pathology and lethality.
Albert MC, Uranga-Murillo I, Arias M, De Miguel D, Peña N, Montinaro A, Varanda AB, Theobald SJ, Areso I, Saggau J, Koch M, Liccardi G, Peltzer N, Rybniker J, Hurtado-Guerrero R, Merino P, Monzón M, Badiola JJ, Reindl-Schwaighofer R, Sanz-Pamplona R, Cebollada-Solanas A, Megyesfalvi Z, Dome B, Secrier M, Hartmann B, Bergmann M, Pardo J, Walczak H. Albert MC, et al. Among authors: secrier m. Cell Death Differ. 2024 May;31(5):544-557. doi: 10.1038/s41418-024-01278-6. Epub 2024 Mar 21. Cell Death Differ. 2024. PMID: 38514848 Free PMC article.
65 results