LOMBARDI, SILVIA

LOMBARDI, SILVIA  

DIPARTIMENTO DI BIOTECNOLOGIE E BIOSCIENZE  

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Titolo Tipologia Data di pubblicazione Autori File
Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency 01 - Articolo su rivista 2016 Lombardi S. +
The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation 01 - Articolo su rivista 2018 Lombardi, S. +
The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies 01 - Articolo su rivista 2019 Lombardi S. +
An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics 01 - Articolo su rivista 2020 Silvia Lombardi +
Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches 01 - Articolo su rivista 2020 Silvia Lombardi +
An exon-specific small nuclear u1 rna (Exspeu1) improves hepatic otc expression in a splicing-defective spf /ash mouse model of ornithine transcarbamylase deficiency 01 - Articolo su rivista 2020 Lombardi S.Ziliotto N. +
Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants 01 - Articolo su rivista 2020 Silvia Lombardi +
A compensatory U1snRNA partially rescues FAH splicing and protein expression in a splicing-defective mouse model of tyrosinemia type I 01 - Articolo su rivista 2020 Lombardi, SilviaZiliotto, Nicole +
Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of {mRNA} splicing and protein function 01 - Articolo su rivista 2021 Silvia Lombardi +
Translation termination codons in protein synthesis and disease 03 - Contributo in libro 2022 Lombardi S. +
Laser microirradiation as a tool to investigate the role of liquid-liquid phase separation in DNA damage repair 01 - Articolo su rivista 2022 Lombardi S.Barabino S. M. L. +
Translational readthrough at F8 nonsense variants in factor VIII B domain contributes to residual expression and lowers inhibitor association 01 - Articolo su rivista 2023 Lombardi, Silvia +