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
Insights Into the Mechanism of MCT8 Oligomerization.
Groeneweg S et al.
Journal of the Endocrine Society, 2020
Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
Vancamp P et al.
Frontiers in Endocrinology, 2020
Disorder of thyroid hormone transport into the tissues.
Groeneweg S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2017
Modulation of monocarboxylate transporter 8 oligomerization by specific pathogenic mutations.
Fischer J et al.
Journal of Molecular Endocrinology, 2015
Structure and function of thyroid hormone plasma membrane transporters.
Schweizer U et al.
European Thyroid Journal, 2014
Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information.
Kleinau G et al.
Thyroid Research, 2011
Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8.
Kinne A et al.
The Journal of Biological Chemistry, 2010
Genetics and phenomics of thyroid hormone transport by MCT8.
Friesema EC et al.
Molecular and Cellular Endocrinology, 2010
Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent.
Kinne A et al.
Journal of Molecular Endocrinology, 2009
Evidence for a homodimeric structure of human monocarboxylate transporter 8.
Visser WE et al.
Endocrinology, 2009
Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8.
Jansen J et al.
Endocrinology, 2008
Thyroid hormone transport in and out of cells.
Visser WE et al.
Trends in Endocrinology and Metabolism: Tem, 2008
Syndromes of reduced sensitivity to thyroid hormone: genetic defects in hormone receptors, cell transporters and deiodination.
Refetoff S et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2007
Mechanisms of disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8.
Friesema EC et al.
Nature Clinical Practice. Endocrinology & Metabolism, 2006
Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene.
Schwartz CE et al.
American Journal of Human Genetics, 2005