SEC23A rescues SEC23B-deficient congenital dyserythropoietic anemia type II
Richard A. King, Zesen Lin, Ginette Balbin-Cuesta, Greggory Myers, Ann Friedman, Guojing Zhu, Beth McGee, Thomas L. Saunders, Ryo Kurita, Yukio Nakamura, James Douglas Engel, Pavan Reddy, Rami Khoriaty
Abstract
paralogs is conserved in human erythroid cells, we generated SEC23B-deficient HUDEP-2 cells. Upon differentiation, these cells exhibited features of CDAII, which were rescued by increased expression of SEC23A, suggesting a novel therapeutic strategy for CDAII.
Topics & Concepts
AnemiaMedicineBiologyPediatricsInternal medicineErythrocyte Function and PathophysiologyBlood properties and coagulationBlood disorders and treatments