Article
Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia.
Gene - 25 Jul 2014
Aspesi Anna, Pavesi Elisa, Robotti Elisa, Crescitelli Rossella, Boria Ilenia, Avondo Federica, Moniz Hélène, Da Costa Lydie, Mohandas Narla, Roncaglia Paola, Ramenghi Ugo, Ronchi Antonella, Gustincich Stefano, Merlin Simone, Marengo Emilio, Ellis Steven R, Follenzi Antonia, Santoro Claudio, Dianzani Irma
Abstract excerpt
Defects in genes encoding ribosomal proteins cause Diamond Blackfan Anemia (DBA), a red cell aplasia often associated with physical abnormalities. Other bone marrow failure syndromes have been attributed to defects in ribosomal components but the link between erythropoiesis and the ribosome remains to be fully defined. Several lines of evidence suggest that defects in ribosome synthesis lead to "ribosomal stress"...
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