Article
Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia.
Haematologica - 1 Nov 2008
Crétien Aurore, Hurtaud Corinne, Moniz Hélène, Proust Alexis, Marie Isabelle, Wagner-Ballon Orianne, Choesmel Valérie, Gleizes Pierre-Emmanuel, Leblanc Thierry, Delaunay Jean, Tchernia Gil, Mohandas Narla, Da Costa Lydie
Abstract excerpt
BACKGROUND: Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanistic understanding of the role of RPS19 in normal erythropoiesis and in the Diamond-Blackfan anemia defect is still poor. However, defective ribosome biogenesis and,...
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