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Cryptic splicing of stathmin-2 and UNC13A mRNAs is a pathological hallmark of TDP-43-associated Alzheimer's disease.
Agra Almeida Quadros AR, Li Z, Wang X, Ndayambaje IS, Aryal S, Ramesh N, Nolan M, Jayakumar R, Han Y, Stillman H, Aguilar C, Wheeler HJ, Connors T, Lopez-Erauskin J, Baughn MW, Melamed Z, Beccari MS, Olmedo Martínez L, Canori M, Lee CZ, Moran L, Draper I, Kopin AS, Oakley DH, Dickson DW, Cleveland DW, Hyman BT, Das S, Ertekin-Taner N, Lagier-Tourenne C. Agra Almeida Quadros AR, et al. Acta Neuropathol. 2024 Jan 4;147(1):9. doi: 10.1007/s00401-023-02655-0. Acta Neuropathol. 2024. PMID: 38175301 Free PMC article.
Stathmin-2 loss leads to neurofilament-dependent axonal collapse driving motor and sensory denervation.
López-Erauskin J, Bravo-Hernandez M, Presa M, Baughn MW, Melamed Z, Beccari MS, Agra de Almeida Quadros AR, Arnold-Garcia O, Zuberi A, Ling K, Platoshyn O, Niño-Jara E, Ndayambaje IS, McAlonis-Downes M, Cabrera L, Artates JW, Ryan J, Hermann A, Ravits J, Bennett CF, Jafar-Nejad P, Rigo F, Marsala M, Lutz CM, Cleveland DW, Lagier-Tourenne C. López-Erauskin J, et al. Nat Neurosci. 2024 Jan;27(1):34-47. doi: 10.1038/s41593-023-01496-0. Epub 2023 Nov 23. Nat Neurosci. 2024. PMID: 37996528
Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies.
Baughn MW, Melamed Z, López-Erauskin J, Beccari MS, Ling K, Zuberi A, Presa M, Gonzalo-Gil E, Maimon R, Vazquez-Sanchez S, Chaturvedi S, Bravo-Hernández M, Taupin V, Moore S, Artates JW, Acks E, Ndayambaje IS, Agra de Almeida Quadros AR, Jafar-Nejad P, Rigo F, Bennett CF, Lutz C, Lagier-Tourenne C, Cleveland DW. Baughn MW, et al. Science. 2023 Mar 17;379(6637):1140-1149. doi: 10.1126/science.abq5622. Epub 2023 Mar 16. Science. 2023. PMID: 36927019 Free PMC article.
Antisense Drugs Make Sense for Neurological Diseases.
Bennett CF, Kordasiewicz HB, Cleveland DW. Bennett CF, et al. Annu Rev Pharmacol Toxicol. 2021 Jan 6;61:831-852. doi: 10.1146/annurev-pharmtox-010919-023738. Epub 2020 Oct 9. Annu Rev Pharmacol Toxicol. 2021. PMID: 33035446 Free PMC article. Review.