The CYB5R3 T117S Missense Variant is Associated with Attenuated Riociguat Efficacy in Sickle Cell Disease
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)
Article Details
Authors (11)
Katherine C Wood
University of Pittsburgh, Pittsburgh, Pennsylvania, United States
Seyed Mehdi Nouraie
University of Maryland, United States
Mark T Gladwin
University of Maryland, United States
Enrico M Novelli
University of Pittsburgh, Pittsburgh, Pennsylvania, United States
Victor R Gordeuk
University of Illinois at Chicago, Chicago, Illinois, United States
Claudia R. Morris
Department of Pediatrics, Emory University School of Medicine, Children’s Healthcare of Atlanta, Atlanta
Caterina P Minniti
Albert Einstein College of Medicine, Chevy Chase, Maryland, United States
Kenneth I Ataga
University of Tennessee Health Science Center at Memphis, Memphis, Tennessee, United States
Payal Chandarana Desai
Levine cancer Institute, Wake Forest school of medicine, Charlotte, Charlotte, North Carolina, United States
Kaleab Z Abebe
University of Pittsburgh, Pittsburgh, Pennsylvania, United States
Adam C Straub
Univeristy of Pittsburgh, Pittsburgh, Pennsylvania, United States