Protein synthesis and translational control in human pathology

Research areas

Our research group carries out its scientific activity in the field of clinical pathology with particular reference to tumor pathology and inherited disorders. Our work is aimed at understanding the pathological mechanisms caused by an alteration of the cellular protein-synthesizing mechanism in order to identify laboratory markers which could be useful in the diagnostic characterization and the prediction of the therapeutical response.

Research Project

The main ongoing project is “Role and impact of the alterations of H/ACA box snoRNA in breast cancer”, funded by the AIRC Foundation. The project is part of a larger undertaking aimed at characterizing the contribution of alterations of ribosomal biogenesis in cancer and hereditary-constitutional diseases: “Study of alterations in the cellular protein-synthetic machinery in human pathology”.

 Updated research objectives

1. H/ACA box snoRNAs and rRNA pseudo-uridylation in breast cancer
2. snoRNA-retaining transcripts (snoRTs) in breast cancer and hepatocellular carcinoma
3. circulating snoRNAs and snoRTs for diagnostic purposes in human tumors
4. 8S rRNA isoforms in human tumors
5. Pathogenesis of ribosomopathies, with a focus on cartilage-hair-hypoplasia (CHH) and dyskeratosis congenita