title: [The importance of thyroid hormone transporters].
abstract: Symptoms of a newly discovered X-chromosomal severe mental retardation disease were published by William Allan, Nash Herndon and Florence Dudley in 1944. Patients suffered from muscle weakness and a developmental delay not able to sit, walk and speak. In addition, they showed an endocrinological phenotype with abnormal thyroid hormone constellations. The reason for the Allan-Herndon-Dudley syndrome was found in a mutation of the monocarboxylate transporter 8 (MCT8, SLC16A2), a specific thyroid hormone transporter.
authors.affiliation: Doreen Braun, AG Prof. Dr. Ulrich Schweizer, Rheinische Friedrich-Wilhelms Universität Bonn, Institut für Biochemie und Molekularbiologie, Nussallee 11, 53115 Bonn, Tel. 02 28/73 33 49, 02 28/73 23 37, E-mail: doreen.braun@uni-bonn.de.
authors.forename: Doreen
authors.initials: D
authors.lastname: Braun
mesh_terms: D006801:Humans; D038901:X-Linked Intellectual Disability / Q000235:genetics*; D008954:Models, Biological; D027501:Monocarboxylic Acid Transporters / Q000235:genetics*; D009123:Muscle Hypotonia / Q000235:genetics*; D009133:Muscular Atrophy / Q000235:genetics*; D027981:Symporters; D013577:Syndrome; D013959:Thyroid Diseases / Q000235:genetics*; D013963:Thyroid Hormones / Q000235:genetics*
chemical_list: D027501:Monocarboxylic Acid Transporters; C090735:SLC16A2 protein, human; D027981:Symporters; D013963:Thyroid Hormones
keywords: Allan-Herndon-Dudley syndrome