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Please use this identifier to cite or link to this item: http://hdl.handle.net/2108/1171

Title: Effect of qualitative and quantitative alteration of ribosomal proteins on ribosome synthesis and cell metabolism
Authors: Amaldi, Francesco
Loreni, Fabrizio
Biondini, Laura
Keywords: ribosomal protein
diamond-blackfan anemia
ribosomal biogenesis
rRNA processing
ribosomal stress
Issue Date: 13-Jan-2010
Abstract: Ribosomal biogenesis is important for cell growth and proliferation. Perturbation of the synthesis and assembly of ribosomal components, as for instance inhibition of rRNA synthesis or decrease of ribosomal protein (RP) production, may lead to nucleolar disruption and to release and/or degradation of ribosomal component. In the last years, several studies suggested that p53 is activated in response to such a “ribosomal stress”, leading to growth arrest or apoptosis.Alteration of ribosome synthesis or function is implicated in several diseases, in which mutation in the genes coding for RP or other nucleolar components may cause defect in ribosome biogenesis. We have been studying the molecular mechanisms of Diamond-BlackfanAnemia (DBA), a congenital hypo plastic anemia associated to various physical malformations. Mutations in rpS19 gene have been identified in about 25% of patients whereas another 2% have mutations in the rpS24 gene. A decrease in RPS19 and RPS24 level has been shown t...
Description: 22. ciclo
URI: http://hdl.handle.net/2108/1171
Appears in Collections:Tesi di dottorato in scienze matematiche e fisiche

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