Article
Nucleolar stress in Diamond Blackfan anemia pathophysiology.
Biochimica et biophysica acta - 1 Jun 2014
Ellis Steven R
Abstract excerpt
Diamond Blackfan anemia is a red cell hypoplasia that typically presents within the first year of life. Most cases of Diamond Blackfan anemia are caused by ribosome assembly defects linked to haploinsufficiency for structural proteins of either ribosomal subunit. Nucleolar stress associated with abortive ribosome assembly leads to p53 activation via the interaction of free ribosomal proteins with HDM2, a negative...
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