ea0084ps1-04-30 | Thyroid Hormone Transporters and Development | ETA2022
Alcaide Martin Andrea
, Heuer Heike
, Mayerl Steffen
Patients with inactivating mutations in MCT8, known as Allan-Herndon-Dudley syndrome (AHDS), present a severe form of psychomotor retardation and, frequently, epileptic seizures of unknown etiology. These neurological symptoms are thought to arise due to an impaired transport of thyroid hormones (TH) across the blood brain barrier and/or into the neural cells. As a consequence of species-specific differences in the expression of the T4-specific organic anion transporter polype...