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List of works by Silvia Lombardi

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

scientific article published on 20 March 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

scientific article published on 19 November 2020

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

scientific article published on 01 October 2020

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

scientific article

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

scientific article published on 11 December 2020

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

scientific article published on 09 November 2018

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

scientific article published on 09 August 2018

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

scientific article published on 15 October 2019

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