Mutations in Thyroid Hormone Transporter MCT8: genotype, function and phenotype
Mutaties in schildklierhormoontransporter MCT8: genotype, functie en fenotype
The studies presented in this thesis demonstrate that MCT8 is a transmembrane protein that facilitates both in- and efflux of thyroid hormone. MCT8 function is crucial for normal neurological development, as loss-of-function mutations are associated with severe psychomotor retardation. In chapter 1, the crucial role of transporters in thyroid hormone physiology is introduced, as are several families of thyroid hormone transporting proteins. The importance of sufficient supply of thyroid hormone for normal brain development and the role of MCT8, are discussed, leading to the general hypothesis on which the work was based.
|T.J. Visser (Theo)|
|Erasmus University Rotterdam|
|Visser, Prof. Dr. Ir. T.J. (promotor), J.E. Jurriaanse Stichting, Ipsen Farmaceutica BV, Novartis Pharma BV, Bristol-Myers Squibb BV, Genzyme Nederland|
|Organisation||Erasmus MC: University Medical Center Rotterdam|
Jansen, J. (2008, May 28). Mutations in Thyroid Hormone Transporter MCT8: genotype, function and phenotype. Erasmus University Rotterdam. Retrieved from http://hdl.handle.net/1765/12433