We are analyzing https://link.springer.com/article/10.1007/s12185-011-0776-0.

Title:
Ribosome defects in disorders of erythropoiesis | International Journal of Hematology
Description:
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.
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Keywords {🔍}

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Topics {✒️}

month download article/chapter rpl11-translation-dependent mechanism p53-dependent checkpoint response p53-mediated dark skin diamond–blackfan anemia results mdm2-mediated p53 ubiquitination diamond–blackfan anemia patients distinct haematological disorder article international journal diamond–blackfan anaemia full article pdf treacher collins syndrome bone marrow failure ribosomal protein s19 privacy choices/manage cookies karp research building diamond–blackfan anemia severe macrocytic anemia ribosomal protein l23 ribosomal protein l11 ribosomal protein s6 5q- syndrome gene harvard medical school p53 protein family ribosomal protein l5 ribosomal protein rps24 ribosomal protein s7 ribosomal protein l26 trends biochem sci p53–mdm2 interaction article narla 40s ribosomal subunits myelodysplastic syndrome ribosomal protein genes mol cell biol biochem cell biol translation-related genes cd34+ cells generated ebert bl human 5q- syndrome ribosomal protein required european economic area dominant negative effect van den berghe world health organization post-transcriptional steps aguissa-toure ah idol ra symmetrical congenital notches jones nc

Questions {❓}

How common are extraribosomal functions of ribosomal proteins?

Schema {🗺️}

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         description: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.
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      headline:Ribosome defects in disorders of erythropoiesis
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