Genomes and Genes
Affiliation: University of Ferrara
- Pinotti M, Balestra D, Rizzotto L, Maestri I, Pagani F, Bernardi F. Rescue of coagulation factor VII function by the U1+5A snRNA. Blood. 2009;113:6461-4 pubmed publisher....
- Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, et al. Exploring Splicing-Switching Molecules For Seckel Syndrome Therapy. Biochim Biophys Acta. 2017;1863:15-20 pubmed publisher..Altogether these data elucidate the molecular mechanisms of the ATR c.2101A>G mutation and identify two potential complementary RNA-based therapies for Seckel syndrome. ..
- Pinotti M, Bertolucci C, Portaluppi F, Colognesi I, Frigato E, Foá A, et al. Daily and circadian rhythms of tissue factor pathway inhibitor and factor VII activity. Arterioscler Thromb Vasc Biol. 2005;25:646-9 pubmed..Moreover, the mouse model could be exploited to investigate modifiers of coagulation rhythms potentially associated to morning peaks of cardiovascular events. ..
- Bertolucci C, Cavallari N, Colognesi I, Aguzzi J, Chen Z, Caruso P, et al. Evidence for an overlapping role of CLOCK and NPAS2 transcription factors in liver circadian oscillators. Mol Cell Biol. 2008;28:3070-5 pubmed publisher..Our data provide the first evidence in peripheral oscillators for an overlapping role of CLOCK and NPAS2 in the regulation of circadianly controlled genes. ..
- Pinotti M, Caruso P, Canella A, Campioni M, Tagariello G, Castaman G, et al. Ribosome readthrough accounts for secreted full-length factor IX in hemophilia B patients with nonsense mutations. Hum Mutat. 2012;33:1373-6 pubmed publisher..Data in patients' plasma and in vitro, obtained in the proper protein context, support a ribosome readthrough gradient, consistent with its predicted determinants of efficiency. ..
- Donadon I, McVey J, Garagiola I, Branchini A, Mortarino M, Peyvandi F, et al. Clustered F8 missense mutations cause hemophilia A by combined alteration of splicing and protein biosynthesis and activity. Haematologica. 2018;103:344-350 pubmed publisher..Taken together we provide a clear example of interplay between mRNA and protein mechanisms of disease that operate in shaping many other inherited disorders. ..