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• W1963836315 abstract "Abstract Diamond-Blackfan anemia (DBA) is a congenital erythroid hypoplasia caused by a functional haploinsufficiency of genes encoding for ribosomal proteins. Recently, a case study reported a patient who became transfusion-independent in response to treatment with the amino acid L-leucine. Therefore, we have validated the therapeutic effect of L-leucine using our recently generated mouse model for RPS19-deficient DBA. Administration of L-leucine significantly improved the anemia in Rps19-deficient mice (19% improvement in hemoglobin concentration; 18% increase in the number of erythrocytes), increased the bone marrow cellularity, and alleviated stress hematopoiesis. Furthermore, the therapeutic response to L-leucine appeared specific for Rps19-deficient hematopoiesis and was associated with down-regulation of p53 activity. Our study supports the rationale for clinical trials of L-leucine as a therapeutic agent for DBA." @default.
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• W1963836315 date "2012-09-13" @default.
• W1963836315 modified "2023-10-01" @default.
• W1963836315 title "Dietary L-leucine improves the anemia in a mouse model for Diamond-Blackfan anemia" @default.
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• W1963836315 doi "https://doi.org/10.1182/blood-2012-05-431437" @default.
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