Silvia Lombardi

Ferrara, Italy

Last Updated: 09/26/2026

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Found 11 publications

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.

Translational readthrough at F8 nonsense variants in the factor VIII B domain contributes to residual expression and lowers inhibitor association.

Journal: Haematologica

Published: April 20, 2022

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function.

Journal: American journal of human genetics

Published: March 16, 2021

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.

Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity.

Journal: British journal of haematology

Published: February 08, 2021

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Molecular Insights into Determinants of Translational Readthrough and Implications for Nonsense Suppression Approaches.

Journal: International journal of molecular sciences

Published: November 13, 2020

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.

An Exon-Specific Small Nuclear U1 RNA (ExSpeU1) Improves Hepatic OTC Expression in a Splicing-Defective spf/ash Mouse Model of Ornithine Transcarbamylase Deficiency.

Journal: International journal of molecular sciences

Published: September 23, 2020

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.

A Compensatory U1snRNA Partially Rescues FAH Splicing and Protein Expression in a Splicing-Defective Mouse Model of Tyrosinemia Type I.

Journal: International journal of molecular sciences

Published: March 04, 2020

An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics.

An engineered human albumin enhances half-life and transmucosal delivery when fused to protein-based biologics.

Journal: Science translational medicine

Published: February 24, 2020

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Translational readthrough of GLA nonsense mutations suggests dominant-negative effects exerted by the interaction of wild-type and missense variants.

Journal: RNA biology

Published: October 16, 2019

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies.

The carboxyl-terminal region of human coagulation factor X as a natural linker for fusion strategies.

Journal: Thrombosis research

Published: July 19, 2018

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

The chaperone-like sodium phenylbutyrate improves factor IX intracellular trafficking and activity impaired by the frequent p.R294Q mutation.

Journal: Journal of thrombosis and haemostasis : JTH

Published: March 07, 2018

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Differential functional readthrough over homozygous nonsense mutations contributes to the bleeding phenotype in coagulation factor VII deficiency.

Journal: Journal of thrombosis and haemostasis : JTH

Published: May 19, 2016

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Last Updated: 09/26/2026