Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley Syndrome

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency

(2015) Maria Gisele Matheus et al.   JOURNAL OF CHILD NEUROLOGY

Further Insights into the Allan-Herndon-Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation

(2015) Christine M. Armour et al.   PLoS One

Psychomotor Retardation Caused by a Defective Thyroid Hormone Transporter: Report of Two Families with Different MCT8 Mutations

(2014) Ahmet Anık et al.   Hormone Research in Paediatrics

Mutations of the Thyroid Hormone Transporter MCT8 Cause Prenatal Brain Damage and Persistent Hypomyelination

(2014) Daniela López-Espíndola et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Histidines in Potential Substrate Recognition Sites Affect Thyroid Hormone Transport by Monocarboxylate Transporter 8 (MCT8)

(2013) Doreen Braun et al.   ENDOCRINOLOGY

The Role of Arg445 and Asp498 in the Human Thyroid Hormone Transporter MCT8

(2013) Stefan Groeneweg et al.   ENDOCRINOLOGY

Mutations in MCT8 in Patients with Allan-Herndon-Dudley-Syndrome Affecting Its Cellular Distribution

(2013) Simone Kersseboom et al.   MOLECULAR ENDOCRINOLOGY

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency

(2012) Charles F. Verge et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

Distinct Roles of Deiodinases on the Phenotype of Mct8 Defect: A Comparison of Eight Different Mouse Genotypes

(2011) Xiao-Hui Liao et al.   ENDOCRINOLOGY

Impact of Monocarboxylate Transporter-8 Deficiency on the Hypothalamus-Pituitary-Thyroid Axis in Mice

(2010) Marija Trajkovic-Arsic et al.   ENDOCRINOLOGY

Essential Molecular Determinants for Thyroid Hormone Transport and First Structural Implications for Monocarboxylate Transporter 8

(2010) Anita Kinne et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Genetics and phenomics of thyroid hormone transport by MCT8

(2010) Edith C.H. Friesema et al.   MOLECULAR AND CELLULAR ENDOCRINOLOGY

Pathophysiological Importance of Thyroid Hormone Transporters

(2009) Heike Heuer et al.   ENDOCRINOLOGY

Importance of Monocarboxylate Transporter 8 for the Blood-Brain Barrier-Dependent Availability of 3,5,3′-Triiodo-l-Thyronine

(2009) Ainhoa Ceballos et al.   ENDOCRINOLOGY

Surface translocation and tri-iodothyronine uptake of mutant MCT8 proteins are cell type-dependent

(2009) Anita Kinne et al.   JOURNAL OF MOLECULAR ENDOCRINOLOGY

Neuronal 3',3,5-Triiodothyronine (T3) Uptake and Behavioral Phenotype of Mice Deficient in Mct8, the Neuronal T3 Transporter Mutated in Allan-Herndon-Dudley Syndrome

(2009) E. K. Wirth et al.   JOURNAL OF NEUROSCIENCE

Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations

(2008) W. Edward Visser et al.   HUMAN MUTATION

Beneficial Effects of Propylthiouracil plusl-Thyroxine Treatment in a Patient with a Mutation inMCT8

(2008) J. L. Wémeau et al.   JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM