Associated Papers
Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A.
Sonntag N et al.
European Thyroid Journal, 2025
Phenylbutyrate Treatment in a Boy With MCT8 Deficiency: Improvement of Thyroid Function Tests and Possible Hepatotoxicity.
Schreiner F et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.
Groeneweg S et al.
Nature Communications, 2025
40075072 (PubMed )
Supplement: 41467_2025_56628_MOESM6_ESM.xlsx › Figure_6E
Select a paper to view details