Ribosomopathies: mechanisms of disease - PubMed (original) (raw)

Review

Ribosomopathies: mechanisms of disease

Hani Nakhoul et al. Clin Med Insights Blood Disord. 2014.

Abstract

Ribosomopathies are diseases caused by alterations in the structure or function of ribosomal components. Progress in our understanding of the role of the ribosome in translational and transcriptional regulation has clarified the mechanisms of the ribosomopathies and the relationship between ribosomal dysfunction and other diseases, especially cancer. This review aims to discuss these topics with updated information.

Keywords: 5q-syndrome; Diamond-Blackfan anemia (DBA); Schwachman-Diamond syndrome (SDS); Treacher Collins syndrome (TCS); cartilage hair hypoplasia (CHH); dyskeratosis congenita (DC); p53; ribosomopathy.

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Figures

Figure 1

Figure 1

The role of p53 activation in the pathogenesis of certain ribosomopathies. Bars indicate inhibition.

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