Article
Novel screening system for high-affinity ligand of heredity vitamin D-resistant rickets-associated vitamin D receptor mutant R274L using bioluminescent sensor.
The Journal of steroid biochemistry and molecular biology - 1 Mar 2017
Mano Hiroki, Nishikawa Miyu, Yasuda Kaori, Ikushiro Shinichi, Saito Nozomi, Sawada Daisuke, Honzawa Shinobu, Takano Masashi, Kittaka Atsushi, Sakaki Toshiyuki
Abstract excerpt
Hereditary vitamin D-resistant rickets (HVDRR) is caused by mutations in the vitamin D receptor (VDR) gene. Arg274 located in the ligand binding domain (LBD) of VDR is responsible for anchoring 1α,25-dihydroxyvitamin D3 (1α,25(OH)2D3) by forming a hydrogen bond with the 1α-hydroxyl group of 1α,25(OH)2D3. The Arg274Leu (R274L) mutation identified in patients with HVDRR causes a 1000-fold decrease in the affinity...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.