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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 Free PMC article.
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.
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.
Gain-of-function mutations of TRPV4 acting in endothelial cells drive blood-CNS barrier breakdown and motor neuron degeneration in mice.
Sullivan JM, Bagnell AM, Alevy J, Avila EM, Mihaljević L, Saavedra-Rivera PC, Kong L, Huh JS, McCray BA, Aisenberg WH, Zuberi AR, Bogdanik L, Lutz CM, Qiu Z, Quinlan KA, Searson PC, Sumner CJ. Sullivan JM, et al. Among authors: zuberi ar. Sci Transl Med. 2024 May 22;16(748):eadk1358. doi: 10.1126/scitranslmed.adk1358. Epub 2024 May 22. Sci Transl Med. 2024. PMID: 38776392 Free PMC article.
120 results