Diverse diseases from a ubiquitous process: The ribosomopathy paradox. Issue 9 (19th March 2014)

• Record Type: Journal Article
• Authors: Armistead, Joy; Triggs-Raine, Barbara
• Is Part Of: FEBS letters. Volume 588:Issue 9(2014)
• Page Start: 1491
• Page End: 1500
• Publication Date: 2014-03-19
• Subjects: Ribosomopathy -- Ribosome biogenesis -- Tissue specificity -- IRES elements; Biochemistry -- Periodicals; Biophysics -- Periodicals; Molecular biology -- Periodicals; Biochimie -- Périodiques; Biochemistry; Biophysics; Molecular biology; Periodicals; 572.05
• DOI: 10.1016/j.febslet.2014.03.024
• Languages: English
• ISSNs: 0014-5793

Abstract

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.