| Autor: |
Xie, Keqiang, Roth, Mark, Efremov, Ivan, Silver, Serena, Ronco, Lucienne, Thompson, Lorin, Stickland, Kim, Moxham, Christopher, Wallace, Owen |
| Zdroj: |
Blood; November 2020, Vol. 136 Issue: 1, Number 1 Supplement 1 p26-27, 2p |
| Abstrakt: |
Sickle cell disease (SCD) results from genetic mutation in the β-globin gene encoding a subunit of the adult form of hemoglobin (HbA), leading to red blood cell (RBC) deformation and disease pathology. It has been demonstrated that reactivation of the fetal ortholog of the hemoglobin beta subunit, HBγ (also referred to as HBG proteins), can prevent or reduce disease-related pathophysiology. In SCD, the presence of HBG protein in hemoglobin tetramers prevents sickle hemoglobin polymerization under deoxygenated conditions and therefore may be of therapeutic benefit in SCD. FTX 6058, a novel orally bioavailable small molecule, is in development for the treatment of sickle cell disease (SCD) by Fulcrum Therapeutics. FTX-6058 was demonstrated to inhibit the novel biological target and elevate the expression of HBγ, resulting in induction of fetal hemoglobin (HbF) tetramer in differentiated human primary CD34+cells. |
| Databáze: |
Supplemental Index |
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