A lipid metabolism defect is an underlying contributor to Diamond Blackfan anemia syndrome
Kaiwen Deng, Yu Wang, Joseph C. Min, Xiaofang Liu, Greggory Myers, Lei Yu, Susan Hammoud, Adham Adam, Rilie Saba, Vaneesha Natogi, Claire M. Drysdale, Brandon Chen, Hiroki Ueharu, Jennifer Lai Yee, Jacob Otto Kitzman, , Sharon A Singh
The paper identifies a lipid metabolism defect as a contributor to variable anemia in Diamond Blackfan anemia syndrome using a murine model and transcriptomic analysis.
bioRxiv · May 22, 2025 · PreprintDevelopmental Biology