Augmenting vitamin D to combat genetic disease.
Vitamin D-resistant rickets is a genetic disease that causes severe bone underdevelopment due to mutations in the vitamin D receptor. Orthogonal analogs of vitamin D were recently identified that correct defects in the ligand binding pocket of a mutant receptor associated with this disease.
Peterson
Blake R
BR
Department of Chemistry, The Pennsylvania State University, 152 Davey Lab, University Park, PA 16802, USA.
D006801:Humans; D007015:Hypophosphatemia, Familial / Q000188:drug therapy* / Q000235:genetics; D009154:Mutation; D011485:Protein Binding; D018167:Receptors, Calcitriol / Q000819:agonists / Q000737:chemistry; D014807:Vitamin D / Q000031:analogs & derivatives* / Q000627:therapeutic use
D018167:Receptors, Calcitriol; D014807:Vitamin D