Diverse diseases from a ubiquitous process: the ribosomopathy paradox - PubMed (original) (raw)

Review

. 2014 May 2;588(9):1491-500.

doi: 10.1016/j.febslet.2014.03.024. Epub 2014 Mar 19.

Affiliations

• PMID: 24657617
• DOI: 10.1016/j.febslet.2014.03.024

Free article

Review

Diverse diseases from a ubiquitous process: the ribosomopathy paradox

Joy Armistead et al. FEBS Lett. 2014.

Free article

Abstract

Collectively, the ribosomopathies are caused by defects in ribosome biogenesis. Although these disorders encompass deficiencies in a ubiquitous and fundamental process, the clinical manifestations are extremely variable and typically display tissue specificity. Research into this paradox has offered fascinating new insights into the role of the ribosome in the regulation of mRNA translation, cell cycle control, and signaling pathways involving TP53, MYC and mTOR. Several common features of ribosomopathies such as small stature, cancer predisposition, and hematological defects, point to how these diverse diseases may be related at a molecular level.

Keywords: IRES elements; Ribosome biogenesis; Ribosomopathy; Tissue specificity.

Copyright © 2014 Federation of European Biochemical Societies. Published by Elsevier B.V. All rights reserved.

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