首页> Molecular medicine (Cambridge, Mass.)> OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapies.

OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spf<sup>ash</sup> mice, and govern susceptibility to RNA-based therapies.

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第一作者： Claudia,Sacchetto

第一单位： Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.;Department of Molecular Genetics, University of Maastricht, Maastricht, The Netherlands.

作者： Claudia,Sacchetto ^[1] ; Laura,Peretto ^[2] ; Francisco,Baralle ^[3] ; Iva,Maestri ^[4] ; Francesca,Tassi ^[2] ; Francesco,Bernardi ^[2] ; Stan F J,van de Graaf ^[5] ; Franco,Pagani ^[6] ; Mirko,Pinotti ^[7] ; Dario,Balestra ^[8]

作者单位： Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy.;Department of Molecular Genetics, University of Maastricht, Maastricht, The Netherlands. ^[1] Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. ^[2] Liver Research Center, Q AREA Science Park, Trieste, Italy. ^[3] Department of Translational Medicine and for Romagna, Pathology Unit of Pathologic Anatomy, Histology and Cytology, University of Ferrara, Ferrara, Italy. ^[4] Tytgat Institute for Liver and Intestinal Research, Amsterdam Gastroenterology Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands. ^[5] Human Molecular Genetics, ICGEB - International Center for Genetic Engineering and Biotechnology, Trieste, Italy. ^[6] Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. pnm@unife.it. ^[7] Department of Life Sciences and Biotechnology, University of Ferrara, Via Fossato di Mortara 74, 44121, Ferrara, Italy. blsdra@unife.it. ^[8]

关键词 Nucleotide variations OTC deficiency Pathogenic mRNA splicing Spfash mouse model U1snRNA