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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. 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.
Pathological structural conversion of α-synuclein at the mitochondria induces neuronal toxicity.
Choi ML, Chappard A, Singh BP, Maclachlan C, Rodrigues M, Fedotova EI, Berezhnov AV, De S, Peddie CJ, Athauda D, Virdi GS, Zhang W, Evans JR, Wernick AI, Zanjani ZS, Angelova PR, Esteras N, Vinokurov AY, Morris K, Jeacock K, Tosatto L, Little D, Gissen P, Clarke DJ, Kunath T, Collinson L, Klenerman D, Abramov AY, Horrocks MH, Gandhi S. Choi ML, et al. Nat Neurosci. 2022 Sep;25(9):1134-1148. doi: 10.1038/s41593-022-01140-3. Epub 2022 Aug 30. Nat Neurosci. 2022. PMID: 36042314 Free PMC article.
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. Science. 2024 Oct 4;386(6717):61-69. doi: 10.1126/science.adk2539. Epub 2024 Oct 3. Science. 2024. PMID: 39361759 Free PMC article.
Proteasome isoforms in human thymi and mouse models.
Mishto M, Takala I, Bonfanti P, Liepe J. Mishto M, et al. Immunol Lett. 2024 Oct;269:106899. doi: 10.1016/j.imlet.2024.106899. Epub 2024 Jul 15. Immunol Lett. 2024. PMID: 39019403 Free article. Review.
NEAT1 modulates the TIRR/53BP1 complex to maintain genome integrity.
Kilgas S, Syed A, Toolan-Kerr P, Swift ML, Roychoudhury S, Sarkar A, Wilkins S, Quigley M, Poetsch AR, Botuyan MV, Cui G, Mer G, Ule J, Drané P, Chowdhury D. Kilgas S, et al. Nat Commun. 2024 Sep 30;15(1):8438. doi: 10.1038/s41467-024-52862-w. Nat Commun. 2024. PMID: 39349456 Free PMC article.
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