MCT8 - AHDS Foundation

Papers

2017

Newsletter AHDS/ MCT8 Deficiency - 4th Addition

2016

AAV9-based delivery of MCT8 to Mct8 deficient mouse brain
Pushing Forward: Remyelination as the new frontier in CNS diseases
Triiodothyroacetic acid treatment in MCT8 deficiency: a word of nuance
Pharmacological and BBB-targeted genetic therapies for thyroid hormonedependent hypomyelination

2015

Efficient activation of pathogenic Phe501 mutation in monocarboxylate transporter 8 by chemical and pharmacological chaperones
Thyroid hormone transporters—functions and clinical implications
Further Insights into the Allan-Herndon- Dudley Syndrome: Clinical and Functional Characterization of a Novel MCT8 Mutation
High T3, low T4 serum levels in Mct8‐deficiency are not caused by increased hepatic conversion through type I‐deiodinase
Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies

2014

In Vitro and Mouse Studies Supporting Therapeutic Utility of Triiodothyroacetic Acid in MCT8 Deficiency
Hypotonic male infant and MCT8 deficiency - a diagnosis to think about
Placenta passage of the thyroid hormone analogue DITPA to male wild-type and Mct8 deficient mice
Cerebral Cortex Hyperthyroidism of Newborn Mct8- Deficient Mice Transiently Suppressed by Lat2 Inactivation
MCT8 expression in human fetal cerebral cortex is reduced in severe intrauterine growth restriction
Micropillar arrays as a high-throughput screening platform for therapeutics in multiple sclerosis
Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis
Altered Behavioral Performance and Live Imaging of Circuit-Specific Neural Deficiencies in a Zebrafish Model for Psychomotor Retardation
Clinical Course and Images of Four Familial Cases of Allan-Herndon-Dudley Syndrome With a Novel Monocarboxylate Transporter 8 Gene Mutation
Structure and Function of Thyroid Hormone Plasma Membrane Transporters

2013

Changes in Thyroid Status During Perinatal Development of MCT8-Deficient Male Mice
Mct8-Deficient Mice Have Increased Energy Expenditure and Reduced Fat Mass That Is Abrogated by Normalization of Serum T3 Levels
MCT 8 in human fetal cerebral cortex is reduced in severe intrauterine growth restriction
Mutations in MCT8 in Patients with Allan-Herndon- Dudley-Syndrome Affecting Its Cellular Distribution
AHDS in two consecutive generations
Tetrac Can Replace Thyroid Hormone During Brain Development in Mouse Mutants Deficient in the Thyroid Hormone Transporter Mct8
Zebrafish as a model to study peripheral thyroid hormone metabolism in vertebrate development

2012

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency
Zebrafish as a model for monocarboxyl transporter 8-deficiency
MCT8 Deficiency: Extrapyramidal Symptoms and Delayed Myelination as Prominent Features
A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment
Finding the Way into the Brain without MCT8

2011

Lack of Action of Exogenously Administered T3 on the Fetal Rat Brain Despite Expression of the Monocarboxylate Transporter 8
Tissue-specific effects of mutations in the thyroid hormone transporter MCT8

2010

Characterization of thyroid hormone transporter expression during tissue-specific metamorphic events in Xenopus tropicalis
The tricyclic antidepressant desipramine inhibits T3 import into primary neurons
Retinoic Acid Induces Expression of the Thyroid Hormone Transporter, Monocarboxylate Transporter 8 (Mct8)
Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8
Thyroid hormone action during brain development: More questions than answers
Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

2009

Axon–Myelin Interactions during a Viral Infection of the Central Nervous System
Pelizaeus–Merzbacher–Like Disease Presentation of MCT8 Mutated Male Subjects
Thyroid hormone analog 3,5-diiodothyropropionic acid promotes healthy vasculature in the adult myocardium independent of thyroid effects on cardiac function
A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport
A novel role for MCT8: Control of thyroid hormone secretion

2008

Effects of thyroidectomy, T4, and DITPA replacement on brain blood vessel density in adult rats
Importance of Monocarboxylate transporter 8 (Mct8) for the Blood-Brain Barrier Dependent Availability of 3,5,3’-Triiodo-L-Thyronine (T3)
Beneficial Effects of Propylthiouracil plus L-Thyroxine Treatment in a Patient with a Mutation in MCT8
Thyroid hormone transport in and out of cells
Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations