Article
Crystal structures of hereditary vitamin D-resistant rickets-associated vitamin D receptor mutants R270L and W282R bound to 1,25-dihydroxyvitamin D3 and synthetic ligands.
Journal of medicinal chemistry - 12 Sept 2013
Nakabayashi Makoto, Tsukahara Yoshito, Iwasaki-Miyamoto Yukiko, Mihori-Shimazaki Mika, Yamada Sachiko, Inaba Satomi, Oda Masayuki, Shimizu Masato, Makishima Makoto, Tokiwa Hiroaki, Ikura Teikichi, Ito Nobutoshi
Abstract excerpt
The vitamin D receptor (VDR), a member of the nuclear receptor superfamily, functions as a ligand-dependent transcription factor for various genes. Hereditary vitamin D-resistant rickets (HVDRR), an autosomal recessive disease, is caused by mutations in the VDR. In particular, the missense mutations R274L and W286R in the ligand-binding domain of the VDR can severely reduce or even eliminate natural hormone...
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