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The CYB5R3 T117S Missense Variant is Associated with Attenuated Riociguat Efficacy in Sickle Cell Disease
Katherine C Wood1, Seyed Mehdi Nouraie2, Mark T Gladwin2
1University of Pittsburgh, Pittsburgh, Pennsylvania, United States.
Abstract:
Sickle cell disease attenuates nitric oxide signaling, limiting soluble guanylyl cyclase (sGC) stimulation needed for hemo-vascular function. Cytochrome b5 reductase 3 (CYB5R3) regulates sGC activity and expression. We show CYB5R3 T117S associates with reduced efficacy of the sGC stimulator riociguat. (NCT02633397).
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