Sfoglia per Autore
Condensation of the N-terminal domain of human topoisomerase 1 is driven by electrostatic interactions and tuned by its charge distribution
2024 Bianchi, G; Mangiagalli, M; Ami, D; Ahmed, J; Lombardi, S; Longhi, S; Natalello, A; Tompa, P; Brocca, S
Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association
2023 Testa, M; Lombardi, S; Bernardi, F; Ferrarese, M; Belvini, D; Radossi, P; Castaman, G; Pinotti, M; Branchini, A
Keep in touch: a perspective on the mitochondrial social network and its implication in health and disease
2023 Barabino, S; Lombardi, S; Zilocchi, M
Laser microirradiation as a tool to investigate the role of liquid-liquid phase separation in DNA damage repair
2022 Levone, B; Lombardi, S; Barabino, S
Translation termination codons in protein synthesis and disease
2022 Lombardi, S; Testa, M; Pinotti, M; Branchini, A
Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity
2021 Lombardi, S; Aaen, K; Nilsen, J; Ferrarese, M; Gjølberg, T; Bernardi, F; Pinotti, M; Andersen, J; Branchini, A
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; Maestri, I; Bernardi, F; Pinotti, M; Balestra, D
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
A compensatory U1snRNA partially rescues FAH splicing and protein expression in a splicing-defective mouse model of tyrosinemia type I
2020 Balestra, D; Scalet, D; Ferrarese, M; Lombardi, S; Ziliotto, N; C. Croes, C; Petersen, N; Bosma, P; Riccardi, F; Pagani, F; Pinotti, M; van de Graaf, S
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants
2020 Lombardi, S; Ferrarese, M; Marchi, S; Pinton, P; Pinotti, M; Bernardi, F; Branchini, A
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches
2020 Lombardi, S; Francesca Testa, M; Pinotti, M; Branchini, A
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; Gjolberg, T; Lode, H; Davidson, R; Camire, R; Baekkevold, E; Foss, S; Grevys, A; Dalhus, B; Wilson, J; Hoydahl, L; Christianson, G; Roopenian, D; Schlothauer, T; Michaelsen, T; Moe, M; Lombardi, S; Pinotti, M; Sandlie, I; Branchini, A; Andersen, J
The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies
2019 Ferrarese, M; Pignani, S; Lombardi, S; Balestra, D; Bernardi, F; Pinotti, M; Branchini, A
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation
2018 Pignani, S; Todaro, A; Ferrarese, M; Marchi, S; Lombardi, S; Balestra, D; Pinton, P; Bernardi, F; Pinotti, M; Branchini, A
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency
2016 Branchini, A; Ferrarese, M; Lombardi, S; Mari, R; Bernardi, F; Pinotti, M
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