Ribosome defects in disorders of erythropoiesis

Ribosome defects in disorders of erythropoiesis,10.1007/s12185-011-0776-0,International Journal of Hematology,Anupama Narla,Slater N. Hurst,Benjamin L

Ribosome defects in disorders of erythropoiesis   (Citations: 1)
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Over the past decade, genetic lesions that cause ribosome dysfunction have been identified in both congenital and acquired human disorders. These discoveries have established a new category of disorders, known as ribosomopathies, in which the primary pathophysiology is related to impaired ribosome function. The protoptypical disorders are Diamond–Blackfan anemia, a congenital bone marrow failure syndrome, and the 5q- syndrome, a subtype of myelodysplastic syndrome. In both of these disorders, impaired ribosome function causes a severe macrocytic anemia. In this review, we will discuss the evidence that defects in ribosomal biogenesis cause the hematologic phenotype of Diamond–Blackfan anemia and the 5q- syndrome. We will also explore the potential mechanisms by which a ribosomal defect, which would be expected to have widespread consequences, may lead to specific defects in erythropoiesis.
Journal: International Journal of Hematology - INT J HEMATOL , vol. 93, no. 2, pp. 144-149, 2011
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