Article
Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution.
Molecular endocrinology (Baltimore, Md.) - 1 May 2013
Kersseboom Simone, Kremers Gert-Jan, Friesema Edith C H, Visser W Edward, Klootwijk Wim, Peeters Robin P, Visser Theo J
Abstract excerpt
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone (TH)-specific transporter. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. To study the functional consequences of different MCT8 mutations in detail, we combined functional analysis in different cell types with live-cell imaging of the cellular...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.