Ribosomal abnormalities and human diseases: Molecular pathogenesis of ribosomopathies

核糖体作为蛋白质合成机器，对所有生物体都是必不可少的。最近，人们清楚地认识到核糖体异常引起的多效性效应可能表现为人类称为核糖体病的特殊疾病。为了研究核糖体病的分子发病机制，我们建立了疾病的斑马鱼模型，并发现了可能与疾病发病机制有关的重要因素。此外，我们还开发了数据库，作为核糖体病研究的基础。

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.