Diverse diseases from a ubiquitous process: The ribosomopathy paradox

被引：93

作者：

Armistead, Joy ^{[1
]}

Triggs-Raine, Barbara ^{[1
,2
]}

机构：

[1] Univ Manitoba, Dept Biochem & Med Genet, Winnipeg, MB R3E 0J9, Canada

[2] Manitoba Inst Child Hlth, Winnipeg, MB R3E 3P4, Canada

来源：

FEBS LETTERS | 2014年 / 588卷 / 09期

关键词：

Ribosomopathy; Ribosome biogenesis; Tissue specificity; IRES elements; DIAMOND-BLACKFAN ANEMIA; MESSENGER-RNA TRANSLATION; BOWEN-CONRADI-SYNDROME; RIBOSOMAL-PROTEIN S19; IRES-MEDIATED TRANSLATION; TCOF1; GENE-PRODUCT; C-MYC; DYSKERATOSIS-CONGENITA; CELL-CYCLE; NUCLEOLAR DISRUPTION;

D O I：

10.1016/j.febslet.2014.03.024

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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. (C) 2014 Federation of European Biochemical Societies. Published by Elsevier B. V. All rights reserved.

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收藏

页码：1491 / 1500

页数：10

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