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Author Correction: TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, 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: keuss mj. 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 and ALS-risk SNPs drive mis-splicing and depletion of UNC13A.
Brown AL, Wilkins OG, Keuss MJ, 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: keuss mj. 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.
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 Y, Prudencio M, Keuss MJ, Khandeshi A, Pickles S, Hill SE, Hawrot J, Ramos DM, Yuan H, Roberts J, Kelmer Sacramento E, Shah SI, Nalls MA, Colon-Mercado J, Reyes JF, Ryan VH, Nelson MP, Cook C, Li Z, Screven L, Kwan JY, Shantaraman A, Ping L, Koike Y, Oskarsson B, Staff N, Duong DM, Ahmed A, Secrier M, Ule J, Jacobson S, Rohrer J, Malaspina A, Glass JD, Ori A, Seyfried NT, Maragkakis M, Petrucelli L, Fratta P, Ward ME. Seddighi S, et al. Among authors: keuss mj. bioRxiv [Preprint]. 2023 Jan 23:2023.01.23.525149. doi: 10.1101/2023.01.23.525149. bioRxiv. 2023. Update in: Sci Transl Med. 2024 Feb 14;16(734):eadg7162. doi: 10.1126/scitranslmed.adg7162 PMID: 36747793 Free PMC article. Updated. Preprint.
Creation of de novo cryptic splicing for ALS/FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Pisliakova M, Thompson D, Digby H, Simkin RL, Diaz JA, Mehta PR, Keuss MJ, Zanovello M, Brown AL, Harley P, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. Among authors: keuss mj. bioRxiv [Preprint]. 2023 Nov 15:2023.11.15.565967. doi: 10.1101/2023.11.15.565967. bioRxiv. 2023. Update in: Science. 2024 Oct 4;386(6717):61-69. doi: 10.1126/science.adk2539 PMID: 38014203 Free PMC article. Updated. Preprint.
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: keuss mj. 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 induces extensive cryptic polyadenylation in ALS/FTD.
Bryce-Smith S, Brown AL, Mehta PR, Mattedi F, Mikheenko A, Barattucci S, Zanovello M, Dattilo D, Yome M, Hill SE, Qi YA, Wilkins OG, Sun K, Ryadnov E, Wan Y; NYGC ALS Consortium; Vargas JNS, Birsa N, Raj T, Humphrey J, Keuss M, Ward M, Secrier M, Fratta P. Bryce-Smith S, et al. bioRxiv [Preprint]. 2024 Jan 23:2024.01.22.576625. doi: 10.1101/2024.01.22.576625. bioRxiv. 2024. PMID: 38313254 Free PMC article. Preprint.
Loss of TDP-43 induces synaptic dysfunction that is rescued by UNC13A splice-switching ASOs.
Keuss MJ, Harley P, Ryadnov E, Jackson RE, Zanovello M, Wilkins OG, Barattucci S, Mehta PR, Oliveira MG, Parkes JE, Sinha A, Correa-Sánchez AF, Oliver PL, Fisher EMC, Schiavo G, Shah M, Burrone J, Fratta P. Keuss MJ, et al. bioRxiv [Preprint]. 2024 Jun 24:2024.06.20.599684. doi: 10.1101/2024.06.20.599684. bioRxiv. 2024. PMID: 38979232 Free PMC article. Preprint.
Creation of de novo cryptic splicing for ALS and FTD precision medicine.
Wilkins OG, Chien MZYJ, Wlaschin JJ, Barattucci S, Harley P, Mattedi F, Mehta PR, Pisliakova M, Ryadnov E, Keuss MJ, Thompson D, Digby H, Knez L, Simkin RL, Diaz JA, Zanovello M, Brown AL, Darbey A, Karda R, Fisher EMC, Cunningham TJ, Le Pichon CE, Ule J, Fratta P. Wilkins OG, et al. Among authors: keuss mj. Science. 2024 Oct 4;386(6717):61-69. doi: 10.1126/science.adk2539. Epub 2024 Oct 3. Science. 2024. PMID: 39361759 Free PMC article.
The AAA + ATPase Thorase is neuroprotective against ischemic injury.
Zhang J, Yang J, Wang H, Sherbini O, Keuss MJ, Umanah GK, Pai EL, Chi Z, Paldanius KM, He W, Wang H, Andrabi SA, Dawson TM, Dawson VL. Zhang J, et al. Among authors: keuss mj. J Cereb Blood Flow Metab. 2019 Sep;39(9):1836-1848. doi: 10.1177/0271678X18769770. Epub 2018 Apr 16. J Cereb Blood Flow Metab. 2019. PMID: 29658368 Free PMC article.
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