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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. Among authors: zuberi a. Science. 2023 Mar 17;379(6637):1140-1149. doi: 10.1126/science.abq5622. Epub 2023 Mar 16. Science. 2023. PMID: 36927019 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. Among authors: zuberi a. Nat Neurosci. 2024 Jan;27(1):34-47. doi: 10.1038/s41593-023-01496-0. Epub 2023 Nov 23. Nat Neurosci. 2024. PMID: 37996528
New mouse models with hypomorphic SUMF1 variants mimic attenuated forms of multiple sulfatase deficiency.
Sorrentino NC, Presa M, Attanasio S, Cacace V, Sofia M, Zuberi A, Ryan J, Ray S, Petkovic I, Radhakrishnan K, Schlotawa L, Ballabio A, Lutz C, Brunetti-Pierri N. Sorrentino NC, et al. Among authors: zuberi a. J Inherit Metab Dis. 2023 Mar;46(2):335-347. doi: 10.1002/jimd.12577. Epub 2022 Dec 11. J Inherit Metab Dis. 2023. PMID: 36433920 Free PMC article.
Plural molecular and cellular mechanisms of pore domain KCNQ2 encephalopathy.
Abreo TJ, Thompson EC, Madabushi A, Soh H, Varghese N, Vanoye CG, Springer K, Park KL, Johnson J, Sims S, Ji Z, Chavez AG, Jankovic MJ, Habte B, Zuberi A, Lutz C, Wang Z, Krishnan V, Dudler L, Einsele-Scholz S, Noebels JL, George AL Jr, Maheshwari A, Tzingounis AV, Cooper EC. Abreo TJ, et al. Among authors: zuberi a. bioRxiv [Preprint]. 2024 Feb 8:2024.01.04.574177. doi: 10.1101/2024.01.04.574177. bioRxiv. 2024. PMID: 38260608 Free PMC article. Preprint.
110 results