ea0090p693 | Pituitary and Neuroendocrinology | ECE2023
Molenaar Anna
, Schriever Sonja
, Cebrian Serrano Alberto
, Pathak Ekta
, Maity-Kumar Gandhari
, Stander Lisa
, Englmaier Felix
, Muller Timo
, Pfluger Paul
Allan-Herndon-Dudley syndrome (AHDS) is a genetic disorder characterized by intellectual disability and movement disorders. AHDS patients have mutations in the monocarboxylate transporter 8 (MCT8) that impedes thyroid hormone (TH) transport to the brain during crucial phases of brain development. In mice, the resulting structural and functional pathologies of human AHDS patients can be mimicked by knocking out murine MCT8 and the Solute Carrier Organic Anion Transporter Family...