title: Diverse diseases from a ubiquitous process: the ribosomopathy paradox.
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.
authors.affiliation: Department of Biochemistry and Medical Genetics, The University of Manitoba, 745 Bannatyne Ave., Winnipeg, MB R3E 0J9, Canada.
authors.forename: Joy
authors.initials: J
authors.lastname: Armistead
authors.affiliation: Department of Biochemistry and Medical Genetics, The University of Manitoba, 745 Bannatyne Ave., Winnipeg, MB R3E 0J9, Canada; The Manitoba Institute of Child Health, 715 McDermot Ave., Winnipeg, MB R3E 3P4, Canada. Electronic address: traine@cc.umanitoba.ca.
authors.forename: Barbara
authors.initials: B
authors.lastname: Triggs-Raine
mesh_terms: D000818:Animals; D001665:Binding Sites; D016259:Genes, myc; D030342:Genetic Diseases, Inborn / Q000235:genetics* / Q000378:metabolism; D006801:Humans; D009154:Mutation; D009928:Organ Specificity; D014176:Protein Biosynthesis; D012270:Ribosomes / Q000235:genetics* / Q000378:metabolism; D058570:TOR Serine-Threonine Kinases / Q000378:metabolism; D016159:Tumor Suppressor Protein p53 / Q000378:metabolism
chemical_list: D016159:Tumor Suppressor Protein p53; D058570:TOR Serine-Threonine Kinases
keywords: IRES elements; Ribosome biogenesis; Ribosomopathy; Tissue specificity