Silvia Lombardi - Dissemin

All papers authored by Silvia Lombardi

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2024 Greta Bianchi, Marco Mangiagalli, Diletta Ami, Junaid Ahmed, Silvia Lombardi

, Sonia Longhi, Antonino Natalello, Peter Tompa, Stefania Brocca

Condensation of the N-terminal domain of human topoisomerase 1 is driven by electrostatic interactions and tuned by its charge distribution

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This paper is made freely available by the publisher.

2023 Silvia Barabino

, Silvia Lombardi

, Mara Zilocchi

Keep in touch: a perspective on the mitochondrial social network and its implication in health and disease

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2022 Maria Francesca Testa, Silvia Lombardi

, Francesco Bernardi, Mattia Ferrarese, Donata Belvini, Paolo Radossi, Giancarlo Castaman, Mirko Pinotti, Alessio Branchini

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

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Brunno Rocha Levone

, Silvia Lombardi

, Silvia M. L. Barabino

Laser microirradiation as a tool to investigate the role of liquid-liquid phase separation in DNA damage repair

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Silvia Lombardi

, Maria Francesca Testa, Mirko Pinotti, Alessio Branchini

Translation termination codons in protein synthesis and disease

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2021 Silvia Lombardi

, Gabriele Leo, Simone Merlin, Antonia Follenzi, John H. McVey

, Iva Maestri, Francesco Bernardi, Mirko Pinotti, Dario Balestra

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

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Silvia Lombardi

, Kristin H. Aaen

, Jeannette Nilsen

, Mattia Ferrarese

, Torleif T. Gjølberg, Francesco Bernardi

, Mirko Pinotti

, Jan T. Andersen

, Alessio Branchini

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

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2020 Silvia Lombardi

, Maria Francesca Testa

, Mirko Pinotti

, Alessio Branchini

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

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Dario Balestra

, Mattia Ferrarese, Silvia Lombardi

, Nicole Ziliotto

, Alessio Branchini

, Naomi Petersen, Piter Bosma, Mirko Pinotti

, Stan F. J. van de Graaf

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

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Malin Bern

, Jeannette Nilsen

, Mattia Ferrarese

, Kine M. K. Sand

, Torleif T. Gjølberg, Heidrun E. Lode

, Robert J. Davidson, Rodney M. Camire, Espen S. Bækkevold, Stian Foss

, Algirdas Grevys

, Bjørn Dalhus

, John Wilson, Lene S. Høydahl

, Gregory J. Christianson

and 9 other authors

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

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Dario Balestra

, Daniela Scalet, Mattia Ferrarese, Silvia Lombardi

, Nicole Ziliotto

, Chrystal C. Croes, Naomi Petersen, Piter Bosma, Federico Riccardi, Franco Pagani, Mirko Pinotti

, Stan F. J. van de Graaf

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

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2019 Silvia Lombardi

, Mattia Ferrarese

, Saverio Marchi

, Paolo Pinton

, Mirko Pinotti

, Francesco Bernardi

, Alessio Branchini

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

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Mattia Ferrarese

, Silvia Pignani, Silvia Lombardi

, Dario Balestra, Francesco Bernardi, Mirko Pinotti, Alessio Branchini

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

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2018 S. Pignani, A. Todaro, M. Ferrarese

, S. Marchi, S. Lombardi

, D. Balestra, P. Pinton, F. Bernardi, M. Pinotti, A. Branchini

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

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2016 Alessio Branchini

, Mattia Ferrarese

, Silvia Lombardi

, Rosella Mari, Francesco Bernardi, Mirko Pinotti

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

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All papers authored by Silvia Lombardi