The Role of Nemo like Kinase in the Pathogenesis and Treatment of Diamond Blackfan Anemia
Abstract
Diamond Blackfan Anemia (DBA) is a genetic disorder that results in pure red cell aplasia, congenital abnormalities, and predisposition to cancer. The current treatment with steroids, chronic transfusions, and stem cell transplantation leads to significant morbidity and even mortality. Approximately 25% of patients with DBA have mutations in RPS19. We identified Nemo-Like Kinase (NLK) as being hyperactive in RPS19-insufficient human cord blood CD34+hematopoietic stem cells. Inhibition of NLK by knockdown or small molecules rescues the erythroid defect in RPS19-insufficient HPSCs.
Document Details
- Document Type
- Technical Report
- Publication Date
- Aug 01, 2021
- Accession Number
- AD1150353
Entities
People
- Kathleen Sakamoto
Organizations
- Stanford University