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Briani Federica
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Giulio Pavesi |
Effect on the trascriptional profile of human PNPase disease-linked variants |
Polynucleotide phosphorylase (PNPase) is an RNA exonuclease conserved from bacteria to humans. In humans, PNPase is localized within mitochondria. Mut ... Polynucleotide phosphorylase (PNPase) is an RNA exonuclease conserved from bacteria to humans. In humans, PNPase is localized within mitochondria. Mutations in the PNPase encoding gene are the source of family diseases with a very variable spectrum of severity and symptoms, ranging from deafness with adult onset to very serious multisystem diseases leading to death in early childhood. This project aims to study the effect of some PNPase mutations identified in patients on the transcriptional profile of Escherichia coli to get insight on the molecular PNPase defect. Preliminary studies have shown that bacterial cells expressing the human enzyme have strongly altered global gene expression. |
- Biologia Applicata alla Ricerca Biomedica (BARB)
- Molecular Biology of the Cell (MBC)
- Bioinformatics for Computational Genomics (BCG)
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October-December 2022 |
1 |
09/06/2022 |
