Article
Targeting of Calbindin 1 rescues erythropoiesis in a human model of Diamond Blackfan anemia.
Blood cells, molecules & diseases - 1 Sept 2023
Wang Nan, LaVasseur Corinne, Riaz Rao, Papoin Julien, Blanc Lionel, Narla Anupama
Abstract excerpt
Diamond Blackfan anemia (DBA) is an inherited bone marrow failure syndrome characterized by congenital anomalies, cancer predisposition and a severe hypo-proliferative anemia. It was the first disease linked to ribosomal dysfunction and >70 % of patients have been identified to have a haploinsufficiency of a ribosomal protein (RP) gene, with RPS19 being the most common mutation. There is significant variability...
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