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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: buratti e. 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.
A new type of mutation causes a splicing defect in ATM.
Pagani F, Buratti E, Stuani C, Bendix R, Dörk T, Baralle FE. Pagani F, et al. Among authors: buratti e. Nat Genet. 2002 Apr;30(4):426-9. doi: 10.1038/ng858. Epub 2002 Mar 11. Nat Genet. 2002. PMID: 11889466
TDP-43 regulates its mRNA levels through a negative feedback loop.
Ayala YM, De Conti L, Avendaño-Vázquez SE, Dhir A, Romano M, D'Ambrogio A, Tollervey J, Ule J, Baralle M, Buratti E, Baralle FE. Ayala YM, et al. Among authors: buratti e. EMBO J. 2011 Jan 19;30(2):277-88. doi: 10.1038/emboj.2010.310. Epub 2010 Dec 3. EMBO J. 2011. PMID: 21131904 Free PMC article.
TDP-43 autoregulation: implications for disease.
Budini M, Buratti E. Budini M, et al. Among authors: buratti e. J Mol Neurosci. 2011 Nov;45(3):473-9. doi: 10.1007/s12031-011-9573-8. Epub 2011 Jun 18. J Mol Neurosci. 2011. PMID: 21681666 Review.
TDP-43: Overview of the series.
Baralle FE, Buratti E. Baralle FE, et al. Among authors: buratti e. FEBS J. 2011 Oct;278(19):3529. doi: 10.1111/j.1742-4658.2011.08278.x. Epub 2011 Sep 6. FEBS J. 2011. PMID: 21810175 Free article. No abstract available.
252 results