Sfoglia per Autore
An exon-specific small nuclear u1 rna (Exspeu1) improves hepatic otc expression in a splicing-defective spf /ash mouse model of ornithine transcarbamylase deficiency
2020 Balestra, D.; Ferrarese, M.; Lombardi, S.; Ziliotto, N.; Branchini, A.; Petersen, N.; Bosma, P.; Pinotti, M.; van de Graaf, S. F. J.
An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics
2020 Bern, M.; Nilsen, J.; Ferrarese, M.; Sand, K. M. K.; Gjolberg, T. T.; Lode, H. E.; Davidson, R. J.; Camire, R. M.; Baekkevold, E. S.; Foss, S.; Grevys, A.; Dalhus, B.; Wilson, J.; Hoydahl, L. S.; Christianson, G. J.; Roopenian, D. C.; Schlothauer, T.; Michaelsen, T. E.; Moe, M. C.; Lombardi, S.; Pinotti, M.; Sandlie, I.; Branchini, A.; Andersen, J. T.
A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I
2020 Balestra, Dario; Scalet, Daniela; Ferrarese, Mattia; Lombardi, Silvia; Ziliotto, Nicole; C. Croes, Chrystal; Petersen, Naomi; Bosma, Piter; Riccardi, Federico; Pagani, Franco; Pinotti, Mirko; van de Graaf, Stan F. J.
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
2020 Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Francesco; Branchini, Alessio
Targeted molecular strategies for X-linked genetic disorders: the paradigmatic models of Fabry disease and Haemophilias
2020 Lombardi, Silvia
Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output
2021 Testa, Maria Francesca; Lombardi, Silvia; Ferrarese, Mattia; Radossi, Paolo; Belvini, Donata; Castaman, Giancarlo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function
2021 Lombardi, S.; Leo, G.; Merlin, S.; Follenzi, A.; Mcvey, J. H.; Maestri, I.; Bernardi, F.; Pinotti, M.; Balestra, D.
Deep molecular mechanisms of F8 exon 19 variants and translational approaches in Hemophilia A
2021 Lombardi, Silvia; Peretto, Laura; Merlin, Simone; Follenzi, Antonia; Mcvey, John H.; Maestri, Iva; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario
Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity
2021 Lombardi, Silvia; Aaen, Kristin H; Nilsen, Jeannette; Ferrarese, Mattia; Gjølberg, Torleif T; Bernardi, Francesco; Pinotti, Mirko; Andersen, Jan T; Branchini, Alessio
Translation termination codons in protein synthesis and disease
2022 Lombardi, S.; Testa, M. F.; Pinotti, M.; Branchini, A.
Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association
2023 Testa, Maria Francesca; Lombardi, Silvia; Bernardi, Francesco; Ferrarese, Mattia; Belvini, Donata; Radossi, Paolo; Castaman, Giancarlo; Pinotti, Mirko; Branchini, Alessio
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| An exon-specific small nuclear u1 rna (Exspeu1) improves hepatic otc expression in a splicing-defective spf /ash mouse model of ornithine transcarbamylase deficiency | 2020 | Balestra, D.; Ferrarese, M.; Lombardi, S.; Ziliotto, N.; Branchini, A.; Petersen, N.; Bosma, P.; ...Pinotti, M.; van de Graaf, S. F. J. | |
| An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics | 2020 | Bern, M.; Nilsen, J.; Ferrarese, M.; Sand, K. M. K.; Gjolberg, T. T.; Lode, H. E.; Davidson, R. J....; Camire, R. M.; Baekkevold, E. S.; Foss, S.; Grevys, A.; Dalhus, B.; Wilson, J.; Hoydahl, L. S.; Christianson, G. J.; Roopenian, D. C.; Schlothauer, T.; Michaelsen, T. E.; Moe, M. C.; Lombardi, S.; Pinotti, M.; Sandlie, I.; Branchini, A.; Andersen, J. T. | |
| A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I | 2020 | Balestra, Dario; Scalet, Daniela; Ferrarese, Mattia; Lombardi, Silvia; Ziliotto, Nicole; C. Croes..., Chrystal; Petersen, Naomi; Bosma, Piter; Riccardi, Federico; Pagani, Franco; Pinotti, Mirko; van de Graaf, Stan F. J. | |
| Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants | 2020 | Lombardi, Silvia; Ferrarese, Mattia; Marchi, Saverio; Pinton, Paolo; Pinotti, Mirko; Bernardi, Fr...ancesco; Branchini, Alessio | |
| Targeted molecular strategies for X-linked genetic disorders: the paradigmatic models of Fabry disease and Haemophilias | 2020 | Lombardi, Silvia | |
| Comparative Analysis Of Residual Factor VIII Expression from Recurrent F8 Nonsense Mutations Indicates that Localization in the B- domain Favours Readthrough- mediated Protein Output | 2021 | Testa, Maria Francesca; Lombardi, Silvia; Ferrarese, Mattia; Radossi, Paolo; Belvini, Donata; Cas...taman, Giancarlo; Bernardi, Francesco; Pinotti, Mirko; Branchini, Alessio | |
| Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function | 2021 | Lombardi, S.; Leo, G.; Merlin, S.; Follenzi, A.; Mcvey, J. H.; Maestri, I.; Bernardi, F.; Pinotti..., M.; Balestra, D. | |
| Deep molecular mechanisms of F8 exon 19 variants and translational approaches in Hemophilia A | 2021 | Lombardi, Silvia; Peretto, Laura; Merlin, Simone; Follenzi, Antonia; Mcvey, John H.; Maestri, Iva...; Bernardi, Francesco; Pinotti, Mirko; Balestra, Dario | |
| Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity | 2021 | Lombardi, Silvia; Aaen, Kristin H; Nilsen, Jeannette; Ferrarese, Mattia; Gjølberg, Torleif T; Ber...nardi, Francesco; Pinotti, Mirko; Andersen, Jan T; Branchini, Alessio | |
| Translation termination codons in protein synthesis and disease | 2022 | Lombardi, S.; Testa, M. F.; Pinotti, M.; Branchini, A. | |
| Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association | 2023 | Testa, Maria Francesca; Lombardi, Silvia; Bernardi, Francesco; Ferrarese, Mattia; Belvini, Donata...; Radossi, Paolo; Castaman, Giancarlo; Pinotti, Mirko; Branchini, Alessio |
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