Hypoxia-inducible factor 2 is a key determinant of manganese excess and polycythemia in SLC30A10 deficiency
Milankumar Prajapati, Jared Z. Zhang, Courtney J. Mercadante, Heather L. Kowalski, Bradley Delaney, Jessica A. Anderson, Shuling Guo, Mariam Aghajan, Thomas Benedict Bartnikas
This study identifies HIF2 as a key driver of erythropoietin excess and polycythemia in SLC30A10 deficiency by linking manganese toxicity to altered hepatic gene expression and hepcidin regulation.
bioRxiv · Feb 20, 2023 · PreprintGenetics