Abstract
Many patients have been characterized harboring a mutation in thyroid hormone receptor (TR) β. Surprisingly none has yet been identified carrying a mutation in TRα1. To facilitate the identification of such patients, several animal models with a mutant TRα1 have been generated. While some phenotypic characteristics, such as an adult euthyroidism, are similar in the mutant mice, other aspects such as metabolism are quite variable. This review summarizes the most important consequences of a mutation in TRα1 in mice focusing on the TRα1-R384C mutation, and projects the insights from the animal models to a putative phenotype of patients with a mutated TRα1.
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We are grateful for financial support from the Swedish Science Council, the Swedish Cancer Society, the EMBO, and the Deutsche Forschungsgemeinschaft.
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Mittag, J., Wallis, K. & Vennström, B. Physiological consequences of the TRα1 aporeceptor state. Heart Fail Rev 15, 111–115 (2010). https://doi.org/10.1007/s10741-008-9119-5
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DOI: https://doi.org/10.1007/s10741-008-9119-5