[HTML][HTML] The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological …
XY Bai, D Miao, D Goltzman, AC Karaplis - Journal of Biological Chemistry, 2003 - ASBMB
Missense mutations in fibroblast growth factor 23 (FGF23) are the cause of autosomal
dominant hypophosphatemic rickets (ADHR). The mutations (R176Q, R179W, and R179Q)
replace Arg residues within a subtilisin-like proprotein convertase (SPC) cleavage site
(RXXR motif), leading to protease resistance of FGF23. The goals of this study were to
examine in vivo the biological potency of the R176Q mutant FGF23 form and to characterize
alterations in homeostatic mechanisms that give rise to the phenotypic presentation of this …
dominant hypophosphatemic rickets (ADHR). The mutations (R176Q, R179W, and R179Q)
replace Arg residues within a subtilisin-like proprotein convertase (SPC) cleavage site
(RXXR motif), leading to protease resistance of FGF23. The goals of this study were to
examine in vivo the biological potency of the R176Q mutant FGF23 form and to characterize
alterations in homeostatic mechanisms that give rise to the phenotypic presentation of this …