Lombardi Silvia
Assistant Professor of Molecular Biology
room 3049, building U3, tel.: +39 02 6448 3352
lab 3049, building U3, tel. +39 02 6448 3348
The activity is focused on the following research lines
Health
Aging Diseases, Genetic Diseases, Neurodegenerative and neurological diseases
Keywords
RNA-binding proteins, DNA damage response, RNA metabolism
Background
Silvia Lombardi is assistant professor of Molecular Biology at the University of Milano-Bicocca (Italy). After a BSc degree in Biology (2014) and an MSc in Biotechnology (2016), in 2020 she received her PhD in Biomedical sciences and Biotechnology at the University of Ferrara (Italy) with a thesis on the development of targeted molecular therapies for genetic disorders.
She moved to Milan in November 2020 and now her research activity is focused on RNA binding proteins in the context of DNA damage response and their role in neurodegenerative disorders. Previously, she worked on the identification and characterization of genetic defects responsible for coagulation disorders and Fabry disease, in addition to the engineering of coagulation factors.
Research areas
Cell physiology, Neurophysiology, Neuroscience.
Research interest
Our group focuses on the investigation of the role of RNA-binding proteins in RNA metabolism and DNA damage response and how these mechanisms contribute to human diseases, with a specific focus on neurodegeneration. Specifically, we are investigating the role of the FET family of RNA-binding proteins in the DNA damage response and how mutations in these proteins affect genome stability.
Research projects
The function of FET proteins in genome stability as a pathogenic pathway for ALS/FTD
Selected articles
- Levone BR*, Lombardi S*, Barabino SML. Laser microirradiation as a tool to investigate the role of liquid-liquid phase separation in DNA damage repair. STAR Protocols. 2022 Mar 18; 3:101146. doi: 10.1016/j.xpro.2022.101146. *these authors contributed equally. https://doi.org/10.1016/j.xpro.2022.101146
- Lombardi S, Leo G, Merlin S, Follenzi A, McVey JH, Maestri I, Bernardi F, Pinotti M, Balestra D. Dissection of pleiotropic effects of variants in and adjacent to F8 exon 19 and rescue of mRNA splicing and protein function. Am J Hum Genet. 2021 Aug 5;108(8):1512-1525. doi: 10.1016/j.ajhg.2021.06.012
- Lombardi S*, Aaen KH*, Nilsen J*, Ferrarese M, Gjølberg TT, Bernardi F, Pinotti M, Andersen JT and Branchini A. Fusion of engineered albumin with factor IX Padua extends half-life and improves coagulant activity. Br J Haematol. 2021 Jul;194(2):453-462. doi: 10.1111/bjh.17559. *these authors contributed equally. DOI: 10.1111/bjh.17559
- Lombardi S, Ferrarese M, Marchi S, Pinton P, Pinotti M, Bernardi F, Branchini A. Translational readthrough of GLA nonsense mutations suggests dominant- negative effects exerted by the interaction of wild-type and missense variants. RNA Biol. 2020 Feb;17(2):254-263. doi: 10.1080/15476286.2019.1676115.
International and national collaborations
- Marc-David Ruepp, UK Dementia Research Institute at King's College London, U.K.
Lombardi's Lab – #LombardiLab_BtBs
last update: May 2023