Article
TSH receptor mutation V509A causes familial hyperthyroidism by release of interhelical constraints between transmembrane helices TMH3 and TMH5.
The Journal of endocrinology - 1 Aug 2005
Karges Beate, Krause Gerd, Homoki Janos, Debatin Klaus-Michael, de Roux Nicolas, Karges Wolfram
Abstract excerpt
Mutations of the human thyrotrophin receptor (TSH-R) are a cause of thyroid adenomas and hyperthyroidism. Here we study mechanisms of receptor activation in a genomic TSH-R variant V509A located in transmembrane helix (TMH) 3, which we identify in a family with congenital hyperthyroidism, multiple adenomas and follicular thyroid cancer. Using molecular modelling and dynamic simulation, we predicted the release of...
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