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Items: 1 to 20 of 197


An exon-specific U1 small nuclear RNA (snRNA) strategy to correct splicing defects.

Fernandez Alanis E, Pinotti M, Dal Mas A, Balestra D, Cavallari N, Rogalska ME, Bernardi F, Pagani F.

Hum Mol Genet. 2012 Jun 1;21(11):2389-98. doi: 10.1093/hmg/dds045. Epub 2012 Feb 23.


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.

J Biol Chem. 2004 Apr 23;279(17):16980-8. Epub 2004 Feb 13.


Improvement of SMN2 pre-mRNA processing mediated by exon-specific U1 small nuclear RNA.

Dal Mas A, Rogalska ME, Bussani E, Pagani F.

Am J Hum Genet. 2015 Jan 8;96(1):93-103. doi: 10.1016/j.ajhg.2014.12.009. Epub 2014 Dec 31.


Regulation of a strong F9 cryptic 5'ss by intrinsic elements and by combination of tailored U1snRNAs with antisense oligonucleotides.

Balestra D, Barbon E, Scalet D, Cavallari N, Perrone D, Zanibellato S, Bernardi F, Pinotti M.

Hum Mol Genet. 2015 Sep 1;24(17):4809-16. doi: 10.1093/hmg/ddv205. Epub 2015 Jun 10.


Determinants of the inherent strength of human 5' splice sites.

Roca X, Sachidanandam R, Krainer AR.

RNA. 2005 May;11(5):683-98.


Low U1 snRNP dependence at the NF1 exon 29 donor splice site.

Raponi M, Buratti E, Dassie E, Upadhyaya M, Baralle D.

FEBS J. 2009 Apr;276(7):2060-73. doi: 10.1111/j.1742-4658.2009.06941.x.


Tra2-mediated recognition of HIV-1 5' splice site D3 as a key factor in the processing of vpr mRNA.

Erkelenz S, Poschmann G, Theiss S, Stefanski A, Hillebrand F, Otte M, Stühler K, Schaal H.

J Virol. 2013 Mar;87(5):2721-34. doi: 10.1128/JVI.02756-12. Epub 2012 Dec 19.


The U1, U2 and U5 snRNAs crosslink to the 5' exon during yeast pre-mRNA splicing.

McGrail JC, O'Keefe RT.

Nucleic Acids Res. 2008 Feb;36(3):814-25. Epub 2007 Dec 15.


U1-snRNA-mediated rescue of mRNA processing in severe factor VII deficiency.

Pinotti M, Rizzotto L, Balestra D, Lewandowska MA, Cavallari N, Marchetti G, Bernardi F, Pagani F.

Blood. 2008 Mar 1;111(5):2681-4. Epub 2007 Dec 21.


Analysis of aberrant pre-messenger RNA splicing resulting from mutations in ATP8B1 and efficient in vitro rescue by adapted U1 small nuclear RNA.

van der Woerd WL, Mulder J, Pagani F, Beuers U, Houwen RH, van de Graaf SF.

Hepatology. 2015 Apr;61(4):1382-91. doi: 10.1002/hep.27620. Epub 2015 Feb 23.


Functional studies on the ATM intronic splicing processing element.

Lewandowska MA, Stuani C, Parvizpur A, Baralle FE, Pagani F.

Nucleic Acids Res. 2005 Jul 19;33(13):4007-15. Print 2005.


Therapeutic strategy to rescue mutation-induced exon skipping in rhodopsin by adaptation of U1 snRNA.

Tanner G, Glaus E, Barthelmes D, Ader M, Fleischhauer J, Pagani F, Berger W, Neidhardt J.

Hum Mutat. 2009 Feb;30(2):255-63. doi: 10.1002/humu.20861. Erratum in: Hum Mutat. 2009 Feb;30(2):274.


Binding of hnRNP H and U2AF65 to respective G-codes and a poly-uridine tract collaborate in the N50-5'ss selection of the REST N exon in H69 cells.

Ortuño-Pineda C, Galindo-Rosales JM, Calderón-Salinas JV, Villegas-Sepúlveda N, Saucedo-Cárdenas O, De Nova-Ocampo M, Valdés J.

PLoS One. 2012;7(7):e40315. doi: 10.1371/journal.pone.0040315. Epub 2012 Jul 5.


Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.

Hartmann L, Neveling K, Borkens S, Schneider H, Freund M, Grassman E, Theiss S, Wawer A, Burdach S, Auerbach AD, Schindler D, Hanenberg H, Schaal H.

Am J Hum Genet. 2010 Oct 8;87(4):480-93. doi: 10.1016/j.ajhg.2010.08.016.


Widespread recognition of 5' splice sites by noncanonical base-pairing to U1 snRNA involving bulged nucleotides.

Roca X, Akerman M, Gaus H, Berdeja A, Bennett CF, Krainer AR.

Genes Dev. 2012 May 15;26(10):1098-109. doi: 10.1101/gad.190173.112.

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