Article
Two resistance to thyroid hormone mutants with impaired hormone binding.
Molecular endocrinology (Baltimore, Md.) - 1 Apr 2003
Huber B Russell, Sandler Ben, West Brian L, Cunha Lima Suzana T, Nguyen Hoa T, Apriletti James W, Baxter John D, Fletterick Robert J
Abstract excerpt
Resistance to hormones is commonly due to mutations in genes encoding receptors. Resistance to thyroid hormone is due mostly to mutations of the beta-form of the human (h) thyroid hormone receptor (hTRbeta). We determined x-ray crystal structures of two hTRbeta ligand-binding domains (LBDs), Ala 317 Thr and Arg 316 His. Amino acids 316 and 317 form part of the hormone-binding pocket. The methyl of Ala 317,...
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