Ribosomal abnormalities and human diseases: Molecular pathogenesis of ribosomopathies

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The ribosome, as the protein synthesis machinery, is essential to all organisms. Recently, it became clear that ribosomal abnormalities cause pleiotropic effects that may manifest as specific disease conditions in humans called ribosomopathies. To investigate the molecular pathogenesis of ribosomopathies, we developed zebrafish models of the diseases and found important factors that may link to the disease pathogenesis. In addition, we also developed databases that serve as a basis for the study of ribosomopathies.