A cost-based-plus pricing approach for repurposed tiratricol in the treatment of Allan-Herndon-Dudley syndrome.

Novel SLC16A2 mutations impair thyroid hormone transport and drive neurodevelopmental deficits in Chinese patients with allan-herndon-dudley syndrome.

Thyrotoxicosis in MCT8 deficiency.

MCT8 Deficiency in Two Brothers With a Novel Deletion Mutation in SLC16A2.

When Neuromotor Delay Meets Thyroid Dysfunction: A Case for Considering Allan-Herndon-Dudley Syndrome.

Thyroid Hormones Act as a Timer for the Postnatal Maturation of Parvalbumin Neurons in Mouse Neocortex.

Altered Dopamine Metabolism and Response to Treatment with Levodopa/Carbidopa in MCT8 Deficiency.

Rationale behind the European Thyroid Association 2024 Guideline to treat the Allan-Herndon-Dudley syndrome with tiratricol?

MCT8 Deficiency in Infancy: Opportunities for Early Diagnosis and Screening.

Novel MCT8 mutation: diagnostic value of T3/T4 ratio.

Is It Time to Expand Newborn Screening for Congenital Hypothyroidism to Other Rare Thyroid Diseases?

Structural insights into brain thyroid hormone transport via MCT8 and OATP1C1.

Inactivation of Thyroid Hormone Transporters Mct8/Oatp1c1 in Mouse Brain Endothelial Cells Causes Region-Specific Alterations in Central Thyroid Hormone Signaling.

Maternal thyroid hormone is required to develop the hindbrain vasculature in zebrafish.

Tiratricol: First Approval.

MCT8 Deficiency in Females.

Pathogenic MCT8V235L creates a steric clash that is alleviated by a compensating mutation of MCT8F285A.

The phenotypic spectrum of individuals with SLC16A2 variants in MCT8 deficiency.

Molecular mechanism of thyroxine transport by monocarboxylate transporters.

Generation of two human induced pluripotent stem cell lines from Allan-Herndon-Dudley syndrome (AHDS) patients with SLC16A2:G401R or SLC16A2: H192R mutation.

Novel SLC16A2 Frameshift Mutation as a Cause of Allan-Herndon-Dudley Syndrome and its Implications for Carrier Screening.

Structural insights into thyroid hormone transporter MCT8.

Allan-Herndon-Dudley Syndrome.

Cryo-EM structure of the human monocarboxylate transporter 10.

Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration.

Diagnostic challenges of Allan-Herndon-Dudley syndrome: a case of hypothyroidism and developmental delay.

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing.

Increased seizure susceptibility in thyroid hormone transporter Mct8/Oatp1c1 knockout mice is associated with altered neurotransmitter systems development.

Sciatic nerve analysis in thyroid hormone transporters Mct8 and Oatp1c1 knockout mice.

Clinical and genetic characteristics of patients with monocarboxylate transporter-8 deficiency: a multicentre retrospective study.

Swallowing Assessment in a Pediatric Case of Allan-Herndon-Dudley Syndrome (MCT8 Deficiency): Advanced Insights into Dysphagia via Flexible Endoscopic Evaluation of Swallowing.

Magnetic Resonance Imaging Techniques for Investigating the MCT8-Deficient Brain in Murine Disease Models.

Toward a treatment for thyroid hormone transporter MCT8 deficiency - achievements and challenges.

Combined Levothyroxine and Propylthiouracil Treatment in Children with Monocarboxylate Transporter 8 Deficiency: A Multicenter Case Series of 12 Patients.

Unmet patient needs in monocarboxylate transporter 8 (MCT8) deficiency: a review.

Defective thyroid hormone transport to the brain leads to astroglial alterations.

Identification of a novel nonsense SLC16A2 gene mutation in an infant with severe neurologic phenotype: A case report.

A Highly Selective Fluorescent Probe for Monitoring the Thyroid Hormone Transporter Activity in Mammalian Cells.

3,3',5-Triiodothyroacetic Acid Transporters.

Identification of Human TRIAC Transmembrane Transporters.

Phenylbutyrate Treatment in a Boy With MCT8 Deficiency: Improvement of Thyroid Function Tests and Possible Hepatotoxicity.

Glycerol Phenylbutyrate Treatment of 2 Patients With Monocarboxylate Transporter 8 Deficiency.

Movement Disorder Perspectives on Monocarboxylate 8 Deficiency: A Case Series of 3 Colombian Patients with Allan-Herndon-Dudley Syndrome.

Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan-Herndon-Dudley syndrome.

Impaired T3 uptake and action in MCT8-deficient cerebral organoids underlie Allan-Herndon-Dudley syndrome.

Late diagnosis of the X-linked MCT8 deficiency (Allan-Herndon-Dudley syndrome) in a teenage girl with primary ovarian insufficiency.

Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges.

Novel SLC16A2 Gene Mutation: A Rare Case of Delayed Myelination with Dysthyroidism,v Allan-Herndon-Dudley Syndrome.

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency.

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out.

Allan-Herndon-Dudley syndrome in Hong Kong: Implication for newborn screening.

Neurovascular unit disruption and blood-brain barrier leakage in MCT8 deficiency.

Proteome Analysis of Thyroid Hormone Transporter Mct8/Oatp1c1-Deficient Mice Reveals Novel Dysregulated Target Molecules Involved in Locomotor Function.

Repetitive Sleep Starts in Allan-Herndon-Dudley Syndrome.

Parent Perspectives on Complex Needs in Patients With MCT8 Deficiency: An International, Prospective, Registry Study.

Corrigendum: In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.

Thyroid hormone transporter Mct8/Oatp1c1 deficiency compromises proper oligodendrocyte maturation in the mouse CNS.

Simple Evaluation of Thyroid Function Leading to the Diagnosis of Allan-Herndon-Dudley Syndrome, a Rare Neurodevelopmental Disorder.

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity.

Thyroid Disorders and Movement Disorders-A Systematic Review.

Human-Induced Pluripotent Stem Cell-Based Model of the Blood-Brain at 10 Years: A Retrospective on Past and Current Disease Models.

Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

Maternal Administration of the CNS-Selective Sobetirome Prodrug Sob-AM2 Exerts Thyromimetic Effects in Murine MCT8-Deficient Fetuses.

Role and Clinical Significance of Monocarboxylate Transporter 8 (MCT8) During Pregnancy.

Mathematical modeling and simulation of thyroid homeostasis: Implications for the Allan-Herndon-Dudley syndrome.

Intracerebroventricular High Doses of 3,3',5-Triiodothyroacetic Acid at Juvenile Stages Improve Peripheral Hyperthyroidism and Mediate Thyromimetic Effects in Limited Brain Regions in a Mouse Model of Monocarboxylate Transporter 8 Deficiency.

TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice.

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene.

Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome.

A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency displays distinct neurological alterations.

Thyroid hormone regulators in human cerebral cortex development.

Development and validation of an LC-MS/MS methodology for the quantification of thyroid hormones in dko MCT8/OATP1C1 mouse brain.

A nationwide survey of monocarboxylate transporter 8 deficiency in Japan: Its incidence, clinical course, MRI and laboratory findings.

Gene therapy targeting the blood-brain barrier improves neurological symptoms in a model of genetic MCT8 deficiency.

[Allan-Herndon-Dudley syndrome: a diagnosis to rule out in any male infant with undiagnosed hypotonia].

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms.

A novel frameshift mutation in Allan-Herndon-Dudley syndrome.

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report.

Sodium Phenylbutyrate Rescues Thyroid Hormone Transport in Brain Endothelial-Like Cells.

AAV9-MCT8 Delivery at Juvenile Stage Ameliorates Neurological and Behavioral Deficits in a Mouse Model of MCT8-Deficiency.

Allan-Herndon-Dudley Syndrome: A Novel Pathogenic Variant of the SLC16A2 gene.

Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome.

Distinct Actions of the Thyroid Hormone Transporters Mct8 and Oatp1c1 in Murine Adult Hippocampal Neurogenesis.

The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation.

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley Syndrome.

Long-Term Efficacy of T3 Analogue Triac in Children and Adults With MCT8 Deficiency: A Real-Life Retrospective Cohort Study.

Thyroid Hormone Transporter Defect: Allan Herndon Dudley Syndrome, Masquerading as Dyskinetic Cerebral Palsy.

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development.

Design and Characterization of a Fluorescent Reporter Enabling Live-cell Monitoring of MCT8 Expression.

Thyroid Hormone Transporter Deficiency in Mice Impacts Multiple Stages of GABAergic Interneuron Development.

First female with Allan-Herndon-Dudley syndrome and partial deletion of X-inactivation center.

Measurement of Reverse Triiodothyronine Level and the Triiodothyronine to Reverse Triiodothyronine Ratio in Dried Blood Spot Samples at Birth May Facilitate Early Detection of Monocarboxylate Transporter 8 Deficiency.

Oligodendrocyte progenitor cell maturation is dependent on dual function of MCT8 in the transport of thyroid hormone across brain barriers and the plasma membrane.

Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment.

Role of thyroid hormones in normal and abnormal central nervous system myelination in humans and rodents.

Absence of Both Thyroid Hormone Transporters MCT8 and OATP1C1 Impairs Neural Stem Cell Fate in the Adult Mouse Subventricular Zone.

Antiepileptic rufinamide and QTc interval shortening in a patient with long QT syndrome: case report.

Brain Gene Expression in Systemic Hypothyroidism and Mouse Models of MCT8 Deficiency: The Mct8-Oatp1c1-Dio2 Triad.

Clinical and Functional Consequences of C-Terminal Variants in MCT8: A Case Series.

The Protein Translocation Defect of MCT8L291R Is Rescued by Sodium Phenylbutyrate.

Thyroid hormone, gene expression, and Central Nervous System: Where we are.

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by MCT8 Gene Mutation.

CRISRP/Cas9-mediated knockout of Mct8 reveals a functional involvement of Mct8 in testis and sperm development in a rat.

Generation of an induced pluripotent stem cell line (SHCDNi003-A) from a one-year-old Chinese Han infant with Allan-Herndon-Dudley syndrome.

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

MCT8 Deficiency: The Road to Therapies for a Rare Disease.

Allan-Herndon-Dudley-Syndrome: Considerations about the Brain Phenotype with Implications for Treatment Strategies.

Central Hypothyroidism Impairs Heart Rate Stability and Prevents Thyroid Hormone-Induced Cardiac Hypertrophy and Pyrexia.

Low CSF/serum ratio of free T4 is associated with decreased quality of life in mild hypothyroidism - A pilot study.

Monocarboxylate Transporters (SLC16): Function, Regulation, and Role in Health and Disease.

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression.

Thyroid Hormone Analogues: An Update.

Sorting Variants of Unknown Significance Identified by Whole Exome Sequencing: Genetic and Laboratory Investigations of Two Novel MCT8 Variants.

Neural Alterations and Hyperactivity of the Hypothalamic-Pituitary-Thyroid Axis in Oatp1c1 Deficiency.

Identification of Inhibitors Based on Molecular Docking: Thyroid Hormone Transmembrane Transporter MCT8 as a Target.

Thyroid Hormone Transporters.

Tissue-Specific Function of Thyroid Hormone Transporters: New Insights from Mouse Models.

In Vitro Characterization of Human, Mouse, and Zebrafish MCT8 Orthologues.

Expanding the phenotypic spectrum of Allan-Herndon-Dudley syndrome in patients with SLC16A2 mutations.

What human blood-brain barrier models can tell us about BBB function and drug discovery?

Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.

Triac in the treatment of Allan-Herndon-Dudley syndrome.

Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiency.

Laparoscopic Management of Choledochal Cysts Associated with Aberrant Hepatic Ducts.

Oligodendroglial Lineage Cells in Thyroid Hormone-Deprived Conditions.

Modeling the Biochemical Phenotype of MCT8 Mutations In Vitro: Resolving a Troubling Inconsistency.

Variable Clinical Characteristics and Molecular Spectrum of Patients with Syndromes of Reduced Sensitivity to Thyroid Hormone: Genetic Defects in the THRB and SLC16A2 Genes.

[A family with Allan-Herndon-Dudley syndrome due to SLC16A2 gene mutation].

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients.

Molecular docking studies of human MCT8 protein with soy isoflavones in Allan-Herndon-Dudley syndrome (AHDS).

Mutated Thyroid Hormone Transporter OATP1C1 Associates with Severe Brain Hypometabolism and Juvenile Neurodegeneration.

[Clinical and genetic features of five patients with Allan-Herndon-Dudley syndrome].

Intermittent Esotropia in 4 Patients With Allan-Herndon-Dudley Syndrome.

Thyroid Hormone Transporters MCT8 and OATP1C1 Control Skeletal Muscle Regeneration.

Thyroid Hormone Transport and Transporters.

Transcriptomics reveal an integrative role for maternal thyroid hormones during zebrafish embryogenesis.

From zebrafish to human: A comparative approach to elucidate the role of the thyroid hormone transporter MCT8 during brain development.

Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination.

Deficiency of the Thyroid Hormone Transporter Monocarboxylate Transporter 8 in Neural Progenitors Impairs Cellular Processes Crucial for Early Corticogenesis.

Outward-Open Model of Thyroid Hormone Transporter Monocarboxylate Transporter 8 Provides Novel Structural and Functional Insights.

Novel A178P mutation in SLC16A2 in a patient with Allan-Herndon-Dudley syndrome.

Severe neurological abnormalities in a young boy with impaired thyroid hormone sensitivity due to a novel mutation in the MCT8 gene.

Disorder of thyroid hormone transport into the tissues.

Zebrafish - An emerging model to explore thyroid hormone transporters and psychomotor retardation.

The Chemical Chaperone Phenylbutyrate Rescues MCT8 Mutations Associated With Milder Phenotypes in Patients With Allan-Herndon-Dudley Syndrome.

MCT8 deficiency in Purkinje cells disrupts embryonic chicken cerebellar development.

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

Novel SLC16A2 mutations in patients with Allan-Herndon-Dudley syndrome.

Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish.

Few Amino Acid Exchanges Expand the Substrate Spectrum of Monocarboxylate Transporter 10.

Hypomyelinating leukodystrophies - a molecular insight into the white matter pathology.

Three novel mutations of the MCT8 (SLC16A2) gene: individual and temporal variations of endocrinological and radiological features.

High T3, Low T4 Serum Levels in Mct8 Deficiency Are Not Caused by Increased Hepatic Conversion through Type I Deiodinase.

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

Efficient Activation of Pathogenic ΔPhe501 Mutation in Monocarboxylate Transporter 8 by Chemical and Pharmacological Chaperones.

The Thyroid Hormone Analog DITPA Ameliorates Metabolic Parameters of Male Mice With Mct8 Deficiency.

[The importance of thyroid hormone transporters].

Treatment of congenital thyroid dysfunction: Achievements and challenges.

Thyroid hormone transporters--functions and clinical implications.

The Value of Comprehensive Thyroid Function Testing and Family History for Early Diagnosis of MCT8 Deficiency.

A Nonradioactive Uptake Assay for Rapid Analysis of Thyroid Hormone Transporter Function.

Redefining the Pediatric Phenotype of X-Linked Monocarboxylate Transporter 8 (MCT8) Deficiency: Implications for Diagnosis and Therapies.

Clinical and endocrine features of two Allan-Herndon-Dudley syndrome patients with monocarboxylate transporter 8 mutations.

Allan-Herndon-Dudley syndrome with unusual profound sensorineural hearing loss.

A 7-month-old male with Allan-Herndon-Dudley syndrome and the power of T3.

[Exome sequencing revealed Allan-Herndon-Dudley syndrome underlying multiple disabilities].