Article
AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.
Thyroid : official journal of the American Thyroid Association - 1 Jul 2022
Liao Xiao-Hui, Avalos Pablo, Shelest Oksana, Ofan Raz, Shilo Michael, Bresee Catherine, Likhite Shibi, Vit Jean-Philippe, Heuer Heike, Kaspar Brian, Meyer Kathrin, Dumitrescu Alexandra M, Refetoff Samuel, Svendsen Clive N, Vatine Gad D
Abstract excerpt
Background: Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor disability disorder that also manifests characteristic abnormal thyroid hormone (TH) levels. AHDS is caused by inactivating mutations in monocarboxylate transporter 8 (MCT8), a specific TH plasma membrane transporter widely expressed in the central nervous system (CNS). MCT8 mutations cause impaired transport of TH across brain barriers,...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
