Pinotti M - Search Results

1

Transposon-mediated Generation of Cellular and Mouse Models of Splicing Mutations to Assess the Efficacy of snRNA-based Therapeutics.

Barbon E, Ferrarese M, van Wittenberghe L, Sanatine P, Ronzitti G, Collaud F, Colella P, Pinotti M, Mingozzi F. Barbon E, et al. Among authors: pinotti m. Mol Ther Nucleic Acids. 2016 Nov 29;5(11):e392. doi: 10.1038/mtna.2016.97. Mol Ther Nucleic Acids. 2016. PMID: 27898092 Free PMC article.

2

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. Balestra D, et al. Among authors: pinotti m. Hum Mol Genet. 2015 Sep 1;24(17):4809-16. doi: 10.1093/hmg/ddv205. Epub 2015 Jun 10. Hum Mol Genet. 2015. PMID: 26063760 Free PMC article.

3

Molecular Basis and Therapeutic Strategies to Rescue Factor IX Variants That Affect Splicing and Protein Function.

Tajnik M, Rogalska ME, Bussani E, Barbon E, Balestra D, Pinotti M, Pagani F. Tajnik M, et al. Among authors: pinotti m. PLoS Genet. 2016 May 26;12(5):e1006082. doi: 10.1371/journal.pgen.1006082. eCollection 2016 May. PLoS Genet. 2016. PMID: 27227676 Free PMC article.

4

An engineered tale-transcription factor rescues transcription of factor VII impaired by promoter mutations and enhances its endogenous expression in hepatocytes.

Barbon E, Pignani S, Branchini A, Bernardi F, Pinotti M, Bovolenta M. Barbon E, et al. Among authors: pinotti m. Sci Rep. 2016 Jun 24;6:28304. doi: 10.1038/srep28304. Sci Rep. 2016. PMID: 27341548 Free PMC article.

5

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Branchini A, Ferrarese M, Lombardi S, Mari R, Bernardi F, Pinotti M. Branchini A, et al. Among authors: pinotti m. J Thromb Haemost. 2016 Oct;14(10):1994-2000. doi: 10.1111/jth.13443. Epub 2016 Sep 19. J Thromb Haemost. 2016. PMID: 27513915 Free article.

6

An Exon-Specific U1snRNA Induces a Robust Factor IX Activity in Mice Expressing Multiple Human FIX Splicing Mutants.

Balestra D, Scalet D, Pagani F, Rogalska ME, Mari R, Bernardi F, Pinotti M. Balestra D, et al. Among authors: pinotti m. Mol Ther Nucleic Acids. 2016 Oct 4;5(10):e370. doi: 10.1038/mtna.2016.77. Mol Ther Nucleic Acids. 2016. PMID: 27701399 Free PMC article.

7

Specific factor IX mRNA and protein features favor drug-induced readthrough over recurrent nonsense mutations.

Branchini A, Ferrarese M, Campioni M, Castaman G, Mari R, Bernardi F, Pinotti M. Branchini A, et al. Among authors: pinotti m. Blood. 2017 Apr 20;129(16):2303-2307. doi: 10.1182/blood-2016-09-738641. Epub 2017 Feb 14. Blood. 2017. PMID: 28196793 Free PMC article.

8

Secretion of wild-type factor IX upon readthrough over F9 pre-peptide nonsense mutations causing hemophilia B.

Ferrarese M, Testa MF, Balestra D, Bernardi F, Pinotti M, Branchini A. Ferrarese M, et al. Among authors: pinotti m. Hum Mutat. 2018 May;39(5):702-708. doi: 10.1002/humu.23404. Epub 2018 Feb 17. Hum Mutat. 2018. PMID: 29388273

9

Exon-specific U1 snRNAs improve ELP1 exon 20 definition and rescue ELP1 protein expression in a familial dysautonomia mouse model.

Donadon I, Pinotti M, Rajkowska K, Pianigiani G, Barbon E, Morini E, Motaln H, Rogelj B, Mingozzi F, Slaugenhaupt SA, Pagani F. Donadon I, et al. Among authors: pinotti m. Hum Mol Genet. 2018 Jul 15;27(14):2466-2476. doi: 10.1093/hmg/ddy151. Hum Mol Genet. 2018. PMID: 29701768 Free PMC article.

10

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Pignani S, Todaro A, Ferrarese M, Marchi S, Lombardi S, Balestra D, Pinton P, Bernardi F, Pinotti M, Branchini A. Pignani S, et al. Among authors: pinotti m. J Thromb Haemost. 2018 Oct;16(10):2035-2043. doi: 10.1111/jth.14236. Epub 2018 Aug 9. J Thromb Haemost. 2018. PMID: 29993188 Free article.

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