Reticular Dysgenesis-associated Adenylate Kinase 2 deficiency causes failure of myelopoiesis through disordered purine metabolism
W. Wang, A. DeVilbiss, M. Arreola, T. Mathews, Z. Zhao, M. Martin-Sandoval, G. Benegiamo, A. Awani, L. Goeminne, D. Dever, Y. Nakauchi, M. Pavel-Dinu, W. Al-Herz, L. Noratangelo, M. H. Porteus, , K. G. Weinacht
This study shows AK2 deficiency disrupts mitochondrial metabolism, causing purine metabolism disorder and myelopoiesis failure through AMP accumulation and NAD+ depletion.
bioRxiv · Jul 5, 2021 · PreprintCell Biology