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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
An intronic polypyrimidine-rich element downstream of the donor site modulates cystic fibrosis transmembrane conductance regulator exon 9 alternative splicing.
Zuccato E, Buratti E, Stuani C, Baralle FE, Pagani F. Zuccato E, et al. Among authors: buratti e. J Biol Chem. 2004 Apr 23;279(17):16980-8. doi: 10.1074/jbc.M313439200. Epub 2004 Feb 13. J Biol Chem. 2004. PMID: 14966131 Free article.
Two intronic elements, a polymorphic TGmTn locus at the end of intron 8 and an intronic splicing silencer in intron 9, regulate aberrant splicing of human cystic fibrosis transmembrane conductance regulator (CFTR) exon 9. Previous studies (Pagani, F., Buratti, E., S …
Two intronic elements, a polymorphic TGmTn locus at the end of intron 8 and an intronic splicing silencer in intron 9, regulate aberrant spl …
Functional mapping of the interaction between TDP-43 and hnRNP A2 in vivo.
D'Ambrogio A, Buratti E, Stuani C, Guarnaccia C, Romano M, Ayala YM, Baralle FE. D'Ambrogio A, et al. Among authors: buratti e. Nucleic Acids Res. 2009 Jul;37(12):4116-26. doi: 10.1093/nar/gkp342. Epub 2009 May 8. Nucleic Acids Res. 2009. PMID: 19429692 Free PMC article.
Nuclear factor TDP-43 can affect selected microRNA levels.
Buratti E, De Conti L, Stuani C, Romano M, Baralle M, Baralle F. Buratti E, et al. FEBS J. 2010 May;277(10):2268-81. doi: 10.1111/j.1742-4658.2010.07643.x. FEBS J. 2010. PMID: 20423455 Free article.
252 results