期刊
LEUKEMIA & LYMPHOMA
卷 55, 期 3, 页码 491-500出版社
TAYLOR & FRANCIS LTD
DOI: 10.3109/10428194.2013.812786
关键词
Ribosomies; p53 pathway; Diamond-Blackfan anemia; myelodysplastic syndrome; hematologic malignancies
资金
- NIH [R01 HL082945, P01 CA108631]
- Leukemia and Lymphoma Society
- Burroughs-Wellcome Fund
More than a decade has passed since the initial identification of ribosomal protein gene mutations in patients with Diamond-Blackfan anemia (DBA), a hematologic disorder that became the founding member of a class of diseases known as ribosomopathies. In these diseases, genetic abnormalities that result in defective ribosome biogenesis cause strikingly tissue-specific phenotypes in patients, specifically bone marrow failure, craniofacial abnormalities and skeletal defects. Several animal models and numerous in vitro studies have demonstrated that the p53 pathway is central to the ribosomopathy phenotype. Additionally, there is mounting evidence of a link between the dysregulation of components of the translational machinery and the pathology of various malignancies. The importance of the role of ribosomal dysfunction in the pathogenesis of hematologic disorders is becoming clearer, and elucidation of the underlying mechanisms could have broad implications for both basic cellular biology and clinical intervention strategies.
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