Disorder of thyroid hormone transport into the tissues

Thyroid Hormone Regulation of Metabolism

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Spatio-temporal transcriptome of the human brain

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Physiological and Molecular Basis of Thyroid Hormone Action

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Cellular and Molecular Basis of Deiodinase-Regulated Thyroid Hormone Signaling1

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Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

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Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation

Friesema, E. C., Grueters, A., Biebermann, H., Krude, H., von Moers, A., Reeser, M., Barrett, T. G., Mancilla, E. E., Svensson, J., Kester, M. H., et al. (2004) · The Lancet · doi:10.1016/s0140-6736(04)17226-7 · Cited by 709 · see citing works

A Novel Syndrome Combining Thyroid and Neurological Abnormalities Is Associated with Mutations in a Monocarboxylate Transporter Gene

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Plasma Membrane Transport of Thyroid Hormones and Its Role in Thyroid Hormone Metabolism and Bioavailability

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Minireview: Thyroid Hormone Transporters: The Knowns and the Unknowns

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Allan-Herndon-Dudley Syndrome and the Monocarboxylate Transporter 8 (MCT8) Gene

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Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

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Identification of a Novel Human Organic Anion Transporting Polypeptide as a High Affinity Thyroxine Transporter

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Expression of the thyroid hormone transporters monocarboxylate transporter-8 (SLC16A2) and organic ion transporter-14 (SLCO1C1) at the blood-brain barrier

Roberts, L. M., Woodford, K., Zhou, M., Black, D. S., Haggerty, J. E., Tate, E. H., Grindstaff, K. K., Mengesha, W., Raman, C., & Zerangue, N. (2008) · Endocrinology · doi:10.1210/en.2008-0378 · Cited by 320 · see citing works

Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice

Dumitrescu, A. M., Liao, X.-H., Weiss, R. E., Millen, K., & Refetoff, S. (2006) · Endocrinology · doi:10.1210/en.2006-0390 · Cited by 318 · see citing works

Thyroid hormone transporters—functions and clinical implications

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Effective cellular uptake and efflux of thyroid hormone by human monocarboxylate transporter 10

Friesema, E. C. H., Jansen, J., Jachtenberg, J.-W., Visser, W. E., Kester, M. H. A., & Visser, T. J. (2008) · Molecular Endocrinology · doi:10.1210/me.2007-0112 · Cited by 285 · see citing works

Functional Characterization of Rat Brain-specific Organic Anion Transporter (Oatp14) at the Blood-Brain Barrier

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Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis

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The monocarboxylate transporter 8 linked to human psychomotor retardation is highly expressed in thyroid hormone-sensitive neuron populations

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Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

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Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

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Diagnostic yield of genetic testing in epileptic encephalopathy in childhood

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Expression Cloning of a Na+-independent Aromatic Amino Acid Transporter with Structural Similarity to H+/Monocarboxylate Transporters

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Thyroid Hormone Transport by the Human Monocarboxylate Transporter 8 and Its Rate-Limiting Role in Intracellular Metabolism

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Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

Cosmo, C. D., Liao, X.-H., Dumitrescu, A. M., Philp, N. J., Weiss, R. E., & Refetoff, S. (2010) · Journal of Clinical Investigation · doi:10.1172/jci42113 · Cited by 198 · see citing works

Tissue-specific mRNA expression profiles of human solute carrier transporter superfamilies

Nishimura, M., & Naito, S. (2008) · Drug Metabolism and Pharmacokinetics · doi:10.2133/dmpk.23.22 · Cited by 190 · see citing works

Identification of Thyroid Hormone Transporters

Friesema, E. C. H., Docter, R., Moerings, E. P. C. M., Stieger, B., Hagenbuch, B., Meier, P. J., Krenning, E. P., HENNEMANN, G., & Visser, T. J. (1999) · Biochemical and Biophysical Research Communications · doi:10.1006/bbrc.1998.9974 · Cited by 177 · see citing works

Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3′-triiodo-L-thyronine

Ceballos, A., Belinchon, M. M., Sanchez-Mendoza, E., Grijota-Martinez, C., Dumitrescu, A. M., Refetoff, S., Morte, B., & Bernal, J. (2009) · Endocrinology · doi:10.1210/en.2008-1616 · Cited by 173 · see citing works

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

López-Espíndola, D., Morales-Bastos, C., Grijota-Martínez, C., Liao, X.-H., Lev, D., Sugo, E., Verge, C. F., Refetoff, S., Bernal, J., & Guadaño-Ferraz, A. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-2162 · Cited by 155 · see citing works

Involvement of Multispecific Organic Anion Transporter, Oatp14 (Slc21a14), in the Transport of Thyroxine across the Blood-Brain Barrier

Tohyama, K., Kusuhara, H., & Sugiyama, Y. (2004) · Endocrinology · doi:10.1210/en.2004-0058 · Cited by 155 · see citing works

Impact of Oatp1c1 deficiency on thyroid hormone metabolism and action in the mouse brain

Mayerl, S., Visser, T. J., Darras, V. M., Horn, S., & Heuer, H. (2012) · Endocrinology · doi:10.1210/en.2011-1633 · Cited by 138 · see citing works

The Human T-Type Amino Acid Transporter-1: Characterization, Gene Organization, and Chromosomal Location

Kim, D. K., Kanai, Y., Matsuo, H., Kim, J. Y., Chairoungdua, A., Kobayashi, Y., Enomoto, A., Ho, S., Goya, T., & Endou, H. (2002) · Genomics · doi:10.1006/geno.2001.6678 · Cited by 136 · see citing works

Cellular entry of thyroid hormones by organic anion transporting polypeptides

Hagenbuch, B. (2007) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2007.03.004 · Cited by 135 · see citing works

Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency

Verge, C. F., Konrad, D., Cohen, M., Di Cosmo, C., Dumitrescu, A. M., Marcinkowski, T., Hameed, S., Hamilton, J., Weiss, R. E., & Refetoff, S. (2012) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2012-2556 · Cited by 134 · see citing works

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

Kinne, A., Kleinau, G., Hoefig, C. S., Grüters, A., Köhrle, J., Krause, G., & Schweizer, U. (2010) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.129577 · Cited by 116 · see citing works

Thyroid hormone transporters: recent advances

Abe, T., Suzuki, T., Unno, M., Tokui, T., & Ito, S. (2002) · Trends in Endocrinology and Metabolism · doi:10.1016/s1043-2760(02)00599-4 · Cited by 111 · see citing works

A Thyroid Hormone Analog with Reduced Dependence on the Monocarboxylate Transporter 8 for Tissue Transport

Cosmo, C. D., Liao, X.-H., Dumitrescu, A. M., Weiss, R. E., & Refetoff, S. (2009) · Endocrinology · doi:10.1210/en.2009-0209 · Cited by 109 · see citing works

Pelizaeus–Merzbacher–Like disease presentation of MCT8 mutated male subjects

Vaurs‐Barrière, C., Deville, M., Sarret, C., Giraud, G., Portes, V. D., Jm, P.-V., Michele, G. D., Dan, B., Brady, A. F., Boespflug‐Tanguy, O., et al. (2009) · Annals of Neurology · doi:10.1002/ana.21579 · Cited by 108 · see citing works

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

Wémeau, J.-L., Pigeyre, M., Proust-Lemoine, E., D’Herbomez, M., Gottrand, F., Jansen, J., Visser, T. J., & Ladsous, M. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-2719 · Cited by 105 · see citing works

Genotype-Phenotype Relationship in Patients with Mutations in Thyroid Hormone Transporter MCT8

Jansen, J., Friesema, E. C. H., Kester, M. H. A., Schwartz, C. E., & Visser, T. J. (2008) · Endocrinology · doi:10.1210/en.2007-1475 · Cited by 98 · see citing works

Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8

Biebermann, H., Ambrugger, P., Tarnow, P., von Moers, A., Schweizer, U., & Grueters, A. (2005) · European Journal of Endocrinology · doi:10.1530/eje.1.01980 · Cited by 97 · see citing works

In Vitro and Mouse Studies Supporting Therapeutic Utility of Triiodothyroacetic Acid in MCT8 Deficiency

Kersseboom, S., Horn, S., Visser, W. E., Chen, J., Friesema, E. C. H., Vaurs‐Barrière, C., Peeters, R. P., Heuer, H., & Visser, T. J. (2014) · Molecular Endocrinology · doi:10.1210/me.2014-1135 · Cited by 96 · see citing works

X-Linked MCT8 Gene Mutations: Characterization of the Pediatric Neurologic Phenotype

Holden, K. R., Zuñiga, O. F., May, M. M., Su, H., Molinero, M. R., Rogers, R. C., & Schwartz, C. E. (2005) · Journal of Child Neurology · doi:10.1177/08830738050200101601 · Cited by 92 · see citing works

Clinical phenotype and endocrinological investigations in a patient with a mutation in the MCT8 thyroid hormone transporter

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Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice

Trajkovic-Arsic, M., Müller, J., Darras, V. M., Groba, C., Lee, S., Weih, D., Bauer, K., Visser, T. J., & Heuer, H. (2010) · Endocrinology · doi:10.1210/en.2010-0593 · Cited by 87 · see citing works

Allan-Herndon syndrome. II. Linkage to DNA markers in Xq21.

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Unexpected Peripheral Markers of Thyroid Function in a Patient with a Novel Mutation of the MCT8 Thyroid Hormone Transporter Gene

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The multispecific thyroid hormone transporter OATP1C1 mediates cell-specific sulforhodamine 101-labeling of hippocampal astrocytes

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

Liao, X.-H., Cosmo, C. D., Dumitrescu, A. M., Hernández, A., SANDE, J. V., Germain, D. L. S., Weiss, R. E., Galton, V. A., & Refetoff, S. (2011) · Endocrinology · doi:10.1210/en.2010-0900 · Cited by 79 · see citing works

Functional Analysis of Monocarboxylate Transporter 8 Mutations Identified in Patients with X-Linked Psychomotor Retardation and Elevated Serum Triiodothyronine

Jansen, J., Friesema, E. C. H., Kester, M. H. A., Milici, C., Reeser, M., Grüters, A., Barrett, T. G., Mancilla, E. E., Svensson, J., Wémeau, J.-L., et al. (2007) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2006-2570 · Cited by 78 · see citing works

Identification and Functional Characterization of Zebrafish Solute Carrier Slc16a2 (Mct8) as a Thyroid Hormone Membrane Transporter

Arjona, F. J., de Vrieze, E., Visser, T. J., Flik, G., & Klaren, P. H. M. (2011) · Endocrinology · doi:10.1210/en.2011-1166 · Cited by 78 · see citing works

Lack of Action of Exogenously Administered T3 on the Fetal Rat Brain Despite Expression of the Monocarboxylate Transporter 8

Grijota-Martínez, C., Díez, D., de Escobar, G. M., Bernal, J., & Morte, B. (2011) · Endocrinology · doi:10.1210/en.2010-1014 · Cited by 77 · see citing works

X-exome sequencing in Finnish families with Intellectual Disability - four novel mutations and two novel syndromic phenotypes

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

Visser, W. E., Jansen, J., Friesema, E. C. H., Kester, M. H. A., Mancilla, E., Lundgren, J., van der Knaap, M. S., Lunsing, R. J., Brouwer, O. F., & Visser, T. J. (2009) · Human Mutation · doi:10.1002/humu.20808 · Cited by 75 · see citing works

MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression

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Decreased cellular uptake and metabolism in Allan-Herndon-Dudley syndrome (AHDS) due to a novel mutation in the MCT8 thyroid hormone transporter

Maranduba, C. M. C., Friesema, E. C. H., Kok, F., Kester, M. H. A., Jansen, J., Sertie, A. L., Passos-Bueno, M. R., & Visser, T. J. (2005) · Journal of Medical Genetics · doi:10.1136/jmg.2005.035840 · Cited by 71 · see citing works

Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 ( MCT 8) mutations in a cohort of adult patients with mental retardation

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The Transport of Thyroxine into Mouse Neuroblastoma Cells, NB41A3: The Effect of L-System Amino Acids*

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Localization of members of MCT monocarboxylate transporter family Slc16 in the kidney and regulation during metabolic acidosis

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Therapeutic applications of thyroid hormone analogues in resistance to thyroid hormone (RTH) syndromes

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The pathophysiological consequences of thyroid hormone transporter deficiencies: Insights from mouse models

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A Novel Mutation in the Monocarboxylate Transporter 8 Gene in a Boy with Putamen Lesions and Low Free T4 Levels in Cerebrospinal Fluid

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White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene

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Consequences of Monocarboxylate Transporter 8 Deficiency for Renal Transport and Metabolism of Thyroid Hormones in Mice

Trajkovic‐Arsic, M., Visser, T. J., Darras, V., Friesema, E. C. H., Schlott, B., Mittag, J., Bauer, K., & Heuer, H. (2009) · Endocrinology · doi:10.1210/en.2009-1053 · Cited by 63 · see citing works

Evidence for a close link between the thyroid hormone transport system and the aromatic amino acid transport system T in erythrocytes.

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MCT8 Deficiency

Tonduti, D., Vanderver, A. L., Berardinelli, A. L., Schmidt, J., Collins, C. D., Novara, F., Genni, A. D., Mita, A., Triulzi, F. M., Brunstrom-Hernandez, J. E., et al. (2012) · Journal of Child Neurology · doi:10.1177/0883073812450944 · Cited by 61 · see citing works

A Novel Monocarboxylate Transporter 8 Gene Mutation as a Cause of Severe Neonatal Hypotonia and Developmental Delay

Papadimitriou, A., Dumitrescu, A. M., Papavasiliou, A. S., Fretzayas, A., Nicolaidou, P., & Refetoff, S. (2007) · PEDIATRICS · doi:10.1542/peds.2007-1247 · Cited by 56 · see citing works

Transport of Iodothyronines by Human L-Type Amino Acid Transporters

Zevenbergen, C., Meima, M. E., Lima de Souza, E. C., Peeters, R. P., Kinne, A., Krause, G., Visser, W. E., & Visser, T. J. (2015) · Endocrinology · doi:10.1210/en.2015-1140 · Cited by 55 · see citing works

Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation

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Erratum to: Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

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Tissue uptake of thyroid hormone by amino acid transporters

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Triac regulation of transcription is T3 receptor isoform- and response element-specific

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Mutation screening in 86 known X-linked mental retardation genes by droplet-based multiplex PCR and massive parallel sequencing

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Structure and Function of Thyroid Hormone Plasma Membrane Transporters

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Adeno Associated Virus 9–Based Gene Therapy Delivers a Functional Monocarboxylate Transporter 8, Improving Thyroid Hormone Availability to the Brain of Mct8-Deficient Mice

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Can Thyroid Hormone Analogues Be Used to Overcome Hypomyelination and Demyelination of the Central Nervous System?

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Schilddrüse: Biochemische und physiologische Grundlagen

Krude, H., & Grüters‐Kieslich, A. (2019) · Springer Reference Medizin · doi:10.1007/978-3-662-57309-9_27 · Cited by 1 · see citing works

Angeborene Schilddrüsenerkrankungen bei Neugeborenen und Kleinkindern

Krude, H., & Grüters‐Kieslich, A. (2019) · Springer Reference Medizin · doi:10.1007/978-3-662-57309-9_31 · Cited by 1 · see citing works

TRIAC May Ameliorate T 3 Thyrotoxicosis in the Allan–Herndon–Dudley Syndrome with MCT8 Deficiency

Emerson, C. H. (2019) · Clinical Thyroidology · doi:10.1089/ct.2019;31.458-462 · Cited by 1 · see citing works

Investigation Of Thyroid Hormones, Diabetic Parameters And Other Anthropometric Parameters In The Sera Of Young Women With 2 Diabetes Mellitus

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Adaptation and evolution

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Overview of Thyroid Disease in Children and Adolescents

Zwaveling‐Soonawala, N., & van Trotsenburg, A. S. P. (2023) · Endocrinology · doi:10.1007/978-3-030-18901-3_3-1 · Cited by 1 · see citing works

Thyroid Disorders

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Bewegungsstörungen und Neurotransmittererkrankungen

Assmann, B. E., & Klein, C. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_256 · Cited by 1 · see citing works

Pathways of ED-induced Neuro-developmental Disturbances: An Overview

Gutleb, A. C. (2020) · Royal Society of Chemistry eBooks · doi:10.1039/9781839160738-00235 · Cited by 1 · see citing works

Zebrafish come modello per lo studio di malattie della tiroide

Marelli, F., & Persani, L. (2021) · L Endocrinologo · doi:10.1007/s40619-021-00833-4 · Cited by 1 · see citing works

The hypothalamus-pituitary-thyroid (HPT) axis of mammals

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Resistencia a la hormona tiroidea: revisión de la literatura

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Thyroid Hormone Metabolism

Köhrle, J. (2018) · Elsevier eBooks · doi:10.1016/b978-0-12-801238-3.99455-8 · Cited by 1 · see citing works

Behavioral, biochemical and morphological characteristics of experimentally changed thyroid status of female mice C3H-A

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Bewegungsstörungen und Neurotransmittererkrankungen bei Kindern und Jugendlichen

Assmann, B. E., & Klein, C. (2019) · Springer Reference Medizin · doi:10.1007/978-3-642-54671-6_256-2

TH Metabolism and Active TH Metabolites in the Heart

Saponaro, F., & Zucchi, R. (2020) · Springer eBooks · doi:10.1007/978-3-030-36871-5_8

Krankheiten der Schilddrüse bei Kindern und Jugendlichen

Bettendorf, M., & Pohlenz, J. (2020) · Springer Reference Medizin · doi:10.1007/978-3-642-54671-6_88-2

Terapia sostitutiva tiroidea e risposta tissutale: quando il TSH non basta

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Krankheiten der Schilddrüse

Bettendorf, M., & Pohlenz, J. (2020) · Springer Reference Medizin · doi:10.1007/978-3-662-60300-0_88

A rare thyroid disorder mimicking mitochondrial disease

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Trattamento del deficit di MCT8 con TRIAC (un trial clinico)

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Angeborene Schilddrüsenerkrankungen bei Neugeborenen und Kleinkindern

Krude, H., & Grüters‐Kieslich, A. (2018) · Springer Reference Medizin · doi:10.1007/978-3-662-52794-8_31-1

Schilddrüse: Biochemische und physiologische Grundlagen

Krude, H., & Grüters‐Kieslich, A. (2018) · Springer Reference Medizin · doi:10.1007/978-3-662-52794-8_27-1

Síndrome de Allan-Herndon-Dudley: un diagnóstico a descartar ante todo lactante varón con hipotonía sin causa determinada

Herranz, D. M., Sánchez, A. M., Jara, M. V. F., Delgado, R. P., Aizpún, J. I. L., Marco, S. S., Álvarez, S. I., & Pisón, J. L. (2022) · Andes pediatrica · doi:10.32641/andespediatr.v93i3.3904

Identification of A Novel Hemizygous SLC16A2 Nonsense Mutation in Allen-Herndon-Dudley Syndrome

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Angeborene und erworbene Hypothyreose: Wie interpretiere ich Schilddrüsenwerte richtig?

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Endocrine Disorders

Manto, M. U., & Hampe, C. S. (2023) · Springer eBooks · doi:10.1007/978-3-031-15070-8_91

Overview of Thyroid Disease in Children and Adolescents

Zwaveling‐Soonawala, N., & van Trotsenburg, A. S. P. (2024) · Endocrinology · doi:10.1007/978-3-030-23709-7_3

Thyroid hormone action

Watanabe, Y., & Weiss, R. E. (2024) · Elsevier eBooks · doi:10.1016/b978-0-443-13825-6.00006-6

Additional file 1 of A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report

Chen, X., Liu, L., & Zeng, C. (2022) · Figshare · doi:10.6084/m9.figshare.19522515

Identification of biomarkers of effect following exposure to endocrine disrupting chemicals in Xenopus laevis and their relevance for human health

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Thyroid Hormone Transporters and Resistance

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Thyroid hormone transport in and out of cells

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Genetics and phenomics of thyroid hormone transport by MCT8

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Mechanisms of Disease: psychomotor retardation and high T3 levels caused by mutations in monocarboxylate transporter 8

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Thyroid hormone transporters and the brain

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