Erforschung und Adressierung der MCT8-Defizienz durch MCT8/OATP1C1-dKO-Gehirntranskriptomik, neuartige MCT8-Cre Linien, und Peptid-TH-Chimären
Abstract
Deficient transport of thyroid hormones due to mutations in the transporter MCT8 lead to severe neurodevelopmental disorders summarized as the Allan-Herndon-Dudley syndrome. The cell-biological consequences of the deficient thyroid hormone transport were investigated by single nucleus RNA sequencing of the cortex of the MCT8/OATP1C1 mouse model. For the targeted characterization of MCT8-expressing cells an MCT8-CreERT2 mouse line was generated and validated.
Fields of Study & Subjects
Thyroid Disorders and Treatments
Drug Transport and Resistance Mechanisms
Genetics and Neurodevelopmental Disorders
Publication details
- Journal / source
- mediaTUM – the media and publications repository of the Technical University Munich (Technical University Munich)
- Publication date
- 2 February 2026
- Language
- EN
- Document type
- Thesis