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Article

Effects of Chemical Chaperones on Thyroid Hormone Transport by MCT8 Mutants in Patient-Derived Fibroblasts.

Endocrinology - 1 Mar 2018

Groeneweg Stefan, van den Berge Amanda, Meima Marcel E, Peeters Robin P, Visser Theo J, Visser W Edward

Abstract excerpt

Mutations in the thyroid hormone (TH) transporter monocarboxylate transporter 8 (MCT8) result in severe intellectual and motor disability. At present, no effective therapy is available to restore TH signaling in MCT8-dependent tissues. Recent in vitro studies in stable overexpression cell models suggested that the function of certain mutant MCT8 proteins, specifically those that affect protein stability and...

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PMID: 29309566
DOI: 10.1210/en.2017-00846

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