Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation.
paper
Cited
Public
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- Authors
- Friesema, Edith C H; Grueters, Annette; Biebermann, Heike; Krude, Heiko; von Moers, Arpad; Reeser, Maarten; Barrett, Timothy G; Mancilla, Edna E; Svensson, Johan; Kester, Monique H A; Kuiper, George G J M; Balkassmi, Sahila; Uitterlinden, AndrΓ© G; Koehrle, Josef; Rodien, Patrice; Halestrap, Andrew P; Visser, Theo J
- Year
- 2004
- Journal
- Lancet (London, England)
- PMID
- 15488219
- DOI
- 10.1016/S0140-6736(04)17226-7
Monocarboxylate transporter 8 (MCT8) is a thyroid hormone transporter, the gene of which is located on the X chromosome. We tested whether mutations in MCT8 cause severe psychomotor retardation and high serum triiodothyronine (T3) concentrations in five unrelated young boys. The coding sequence of MCT8 was analysed by PCR and direct sequencing of its six exons. In two patients, gene deletions of 2.4 kb and 24 kb were recorded and in three patients missense mutations Ala150Val, Arg171 stop, and Leu397Pro were identified. We suggest that this novel syndrome of X-linked psychomotor retardation is due to a defect in T3 entry into neurons through MCT8, resulting in impaired T3 action and metabolism.
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| The European thyroid journal reaches adulthood: starting its fourth year of publication. | Wiersinga WM | β | 2015 | β |
| The expanding spectrum of thyroid hormone resistance concerns the entire medical field. | WΓ©meau JL | β | 2015 | β |
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| Guidelines for the treatment of hypothyroidism: prepared by the american thyroid association task force on thyroid hormone replacement. | Jonklaas J et al. | β | 2014 | β |
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| In vitro and mouse studies supporting therapeutic utility of triiodothyroacetic acid in MCT8 deficiency. | Kersseboom S et al. | β | 2014 | β |
| Maternal thyroid hormones are essential for neural development in zebrafish. | Campinho MA et al. | β | 2014 | β |
| MCT8 expression in human fetal cerebral cortex is reduced in severe intrauterine growth restriction. | Chan SY et al. | β | 2014 | β |
| Mutations of the thyroid hormone transporter MCT8 cause prenatal brain damage and persistent hypomyelination. | LΓ³pez-EspΓndola D et al. | β | 2014 | β |
| On the value of seasonal mammals for identifying mechanisms underlying the control of food intake and body weight. | Ebling FJ | β | 2014 | β |
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| Structure and function of thyroid hormone plasma membrane transporters. | Schweizer U et al. | β | 2014 | β |
| The human body burden of polybrominated diphenyl ethers and their relationships with thyroid hormones in the general population in Northern China. | Huang F et al. | β | 2014 | β |
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| Tissue-specific expression of monocarboxylate transporters during fasting in mice. | Schutkowski A et al. | β | 2014 | β |
| Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis. | Mayerl S et al. | β | 2014 | β |
| Transport of thyroid hormone in brain. | Wirth EK et al. | β | 2014 | β |
| X-exome sequencing in Finnish families with intellectual disability--four novel mutations and two novel syndromic phenotypes. | Philips AK et al. | β | 2014 | β |
| A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome. | Yamamoto S et al. | β | 2013 | β |
| Associations between single nucleotide polymorphisms in thyroid hormone transporter genes (MCT8, MCT10 and OATP1C1) and circulating thyroid hormones. | Roef GL et al. | β | 2013 | β |
| Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency. | Goto M et al. | β | 2013 | β |
| Changes in thyroid status during perinatal development of MCT8-deficient male mice. | Ferrara AM et al. | β | 2013 | β |
| Congenital hypothyroidism: recommendations of the Thyroid Department of the Brazilian Society of Endocrinology and Metabolism. | Maciel LM et al. | β | 2013 | β |
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| Energy balance regulation by thyroid hormones at central level. | LΓ³pez M et al. | β | 2013 | β |
| Episodic movement disorders: from phenotype to genotype and back. | Brockmann K | β | 2013 | β |
| Function of thyroid hormone transporters in the central nervous system. | Schweizer U et al. | β | 2013 | β |
| Histidines in potential substrate recognition sites affect thyroid hormone transport by monocarboxylate transporter 8 (MCT8). | Braun D et al. | β | 2013 | β |
| Hypothyroidism and depression. | Dayan CM et al. | β | 2013 | β |
| Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. | Visser WE et al. | β | 2013 | β |
| Importance of cysteine residues in the thyroid hormone transporter MCT8. | Lima de Souza EC et al. | β | 2013 | β |
| Importance of His192 in the human thyroid hormone transporter MCT8 for substrate recognition. | Groeneweg S et al. | β | 2013 | β |
| Increased oxidative metabolism and neurotransmitter cycling in the brain of mice lacking the thyroid hormone transporter SLC16A2 (MCT8). | Rodrigues TB et al. | β | 2013 | β |
| Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings. | Fu J et al. | β | 2013 | β |
| Making sense with thyroid hormone--the role of T(3) in auditory development. | Ng L et al. | β | 2013 | β |
| MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. | Tonduti D et al. | β | 2013 | β |
| Mct8-deficient mice have increased energy expenditure and reduced fat mass that is abrogated by normalization of serum T3 levels. | Di Cosmo C et al. | β | 2013 | β |
| Microcephaly. | Passemard S et al. | β | 2013 | β |
| Monocarboxylate transporter 8 modulates the viability and invasive capacity of human placental cells and fetoplacental growth in mice. | Vasilopoulou E et al. | β | 2013 | β |
| Mutations in MCT8 in patients with Allan-Herndon-Dudley-syndrome affecting its cellular distribution. | Kersseboom S et al. | β | 2013 | β |
| Opening the black box: revealing the molecular basis of thyroid hormone transport. | MartagΓ³n AJ et al. | β | 2013 | β |
| Pitfalls in the measurement and interpretation of thyroid function tests. | Koulouri O et al. | β | 2013 | β |
| Recent insights into the cell biology of thyroid angiofollicular units. | Colin IM et al. | β | 2013 | β |
| Regulators of thyroid hormone availability and action in embryonic chicken brain development. | Van Herck SL et al. | β | 2013 | β |
| Relevance of different cellular models in determining the effects of mutations on SLC16A2/MCT8 thyroid hormone transporter function and genotype-phenotype correlation. | Capri Y et al. | β | 2013 | β |
| Role and Mechanisms of Actions of Thyroid Hormone on the Skeletal Development. | Kim HY et al. | β | 2013 | β |
| Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter mct8. | Horn S et al. | β | 2013 | β |
| The pathophysiological consequences of thyroid hormone transporter deficiencies: Insights from mouse models. | Heuer H et al. | β | 2013 | β |
| The SLC16 gene family - structure, role and regulation in health and disease. | Halestrap AP | β | 2013 | β |
| The syndromes of reduced sensitivity to thyroid hormone. | Dumitrescu AM et al. | β | 2013 | β |
| Thyroid hormone is required for hypothalamic neurons regulating cardiovascular functions. | Mittag J et al. | β | 2013 | β |
| Zebrafish as a model for monocarboxyl transporter 8-deficiency. | Vatine GD et al. | β | 2013 | β |
| A novel pathway regulates thyroid hormone availability in rat and human hypothalamic neurosecretory neurons. | KallΓ³ I et al. | β | 2012 | β |
| Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. | Verge CF et al. | β | 2012 | β |
| Expression profile and thyroid hormone responsiveness of transporters and deiodinases in early embryonic chicken brain development. | Van Herck SL et al. | β | 2012 | β |
| Finding the way into the brain without MCT8. | Visser WE et al. | β | 2012 | β |
| Impact of Oatp1c1 deficiency on thyroid hormone metabolism and action in the mouse brain. | Mayerl S et al. | β | 2012 | β |
| Mechanisms of thyroid hormone action. | Brent GA | β | 2012 | β |
| Minireview: The neural regulation of the hypothalamic-pituitary-thyroid axis. | Costa-e-Sousa RH et al. | β | 2012 | β |
| Monocarboxylate transporter 10 functions as a thyroid hormone transporter in chondrocytes. | Abe S et al. | β | 2012 | β |
| The monocarboxylate transporter family--role and regulation. | Halestrap AP et al. | β | 2012 | β |
| The monocarboxylate transporter family--Structure and functional characterization. | Halestrap AP | β | 2012 | β |
| The SLC16A family of monocarboxylate transporters (MCTs)--physiology and function in cellular metabolism, pH homeostasis, and fluid transport. | Adijanto J et al. | β | 2012 | β |
| The use of next-generation sequencing in movement disorders. | Krebs CE et al. | β | 2012 | β |
| Thyroid hormone metabolism and environmental chemical exposure. | Leijs MM et al. | β | 2012 | β |
| Thyroid hormone metabolism in skeletal development and adult bone maintenance. | Waung JA et al. | β | 2012 | β |
| Thyroid hormone replacement therapy: three 'simple' questions, complex answers. | Bianco AC et al. | β | 2012 | β |
| Thyroid hormone transporters and deiodinases in the developing human hypothalamus. | Friesema EC et al. | β | 2012 | β |
| Understanding the hypothalamus-pituitary-thyroid axis in mct8 deficiency. | MΓΌller J et al. | β | 2012 | β |
| A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. | Zung A et al. | β | 2011 | β |
| Aminoaciduria, but normal thyroid hormone levels and signalling, in mice lacking the amino acid and thyroid hormone transporter Slc7a8. | Braun D et al. | β | 2011 | β |
| A review on the metabolic disorders of iodine deficiency. | Mansourian AR | β | 2011 | β |
| Delivery of maternal thyroid hormones to the fetus. | Patel J et al. | β | 2011 | β |
| Developmental and cell-specific expression of thyroid hormone transporters in the mouse cochlea. | Sharlin DS et al. | β | 2011 | β |
| Developmental and cell type-specific expression of thyroid hormone transporters in the mouse brain and in primary brain cells. | Braun D et al. | β | 2011 | β |
| Distinct roles of deiodinases on the phenotype of Mct8 defect: a comparison of eight different mouse genotypes. | Liao XH et al. | β | 2011 | β |
| Expression of thyroid hormone transporters in the human hypothalamus. | Alkemade A et al. | β | 2011 | β |
| Hepatic organic anion transporting polypeptide transporter and thyroid hormone receptor interplay determines cholesterol and glucose homeostasis. | Meyer zu Schwabedissen HE et al. | β | 2011 | β |
| Identification of region-specific genes in the early chicken endoderm. | Kimura W et al. | β | 2011 | β |
| Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information. | Kleinau G et al. | β | 2011 | β |
| Lack of action of exogenously administered T3 on the fetal rat brain despite expression of the monocarboxylate transporter 8. | Grijota-MartΓnez C et al. | β | 2011 | β |
| MCT8: from gene to disease and therapeutic approach. | Kersseboom S et al. | β | 2011 | β |
| Minireview: thyroid hormone transporters: the knowns and the unknowns. | Visser WE et al. | β | 2011 | β |
| Molecules important for thyroid hormone synthesis and action - known facts and future perspectives. | Brix K et al. | β | 2011 | β |
| Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy. | Wirth EK et al. | β | 2011 | β |
| Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. | Filho HC et al. | β | 2011 | β |
| Primary and secondary thyroid hormone transporters. | Kinne A et al. | β | 2011 | β |
| The expression of thyroid hormone transporters in the human fetal cerebral cortex during early development and in N-Tera-2 neurodifferentiation. | Chan SY et al. | β | 2011 | β |
| The nuclear receptor corepressor (NCoR) controls thyroid hormone sensitivity and the set point of the hypothalamic-pituitary-thyroid axis. | Astapova I et al. | β | 2011 | β |
| The thyroid hormones and their nuclear receptors in the gut: from developmental biology to cancer. | Sirakov M et al. | β | 2011 | β |
| The thyroid hormone transporters MCT8 and MCT10 transport the affinity-label N-bromoacetyl-[(125)I]T3 but are not modified by it. | Visser WE et al. | β | 2011 | β |
| Thyroid hormone and the neuroglia: both source and target. | MohΓ‘csik P et al. | β | 2011 | β |
| [Thyroid hormone resistance syndromes]. | Bernal J | β | 2011 | β |
| Thyroid status in a large cohort of patients with mental retardation: the TOP-R (Thyroid Origin of Psychomotor Retardation) study. | Visser WE et al. | β | 2011 | β |
| Tissue-specific effects of mutations in the thyroid hormone transporter MCT8. | Kersseboom S et al. | β | 2011 | β |
| What should be done when thyroid function tests do not make sense? | Gurnell M et al. | β | 2011 | β |
| Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. | Boccone L et al. | β | 2010 | β |
| Disruption at the PTCHD1 Locus on Xp22.11 in Autism spectrum disorder and intellectual disability. | Noor A et al. | β | 2010 | β |
| Elevated TSH levels in a mentally retarded boy. | Crushell E et al. | β | 2010 | β |
| Essential molecular determinants for thyroid hormone transport and first structural implications for monocarboxylate transporter 8. | Kinne A et al. | β | 2010 | β |
| Fine-scale survey of X chromosome copy number variants and indels underlying intellectual disability. | Whibley AC et al. | β | 2010 | β |
| Impact of monocarboxylate transporter-8 deficiency on the hypothalamus-pituitary-thyroid axis in mice. | Trajkovic-Arsic M et al. | β | 2010 | β |
| Localization of members of MCT monocarboxylate transporter family Slc16 in the kidney and regulation during metabolic acidosis. | Becker HM et al. | β | 2010 | β |
| Maternal thyroid hormones are transcriptionally active during embryo-foetal development: results from a novel transgenic mouse model. | Nucera C et al. | β | 2010 | β |
| Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion. | Di Cosmo C et al. | β | 2010 | β |
| Paracrine signaling by glial cell-derived triiodothyronine activates neuronal gene expression in the rodent brain and human cells. | Freitas BC et al. | β | 2010 | β |
| Photoperiodic regulation of puberty in seasonal species. | Ebling FJ | β | 2010 | β |
| Regional decrease of subcutaneous adipose tissue in patients with type 2 familial partial lipodystrophy is associated with changes in thyroid hormone metabolism. | Lado-Abeal J et al. | β | 2010 | β |
| Regulation of the hypothalamic thyrotropin releasing hormone (TRH) neuron by neuronal and peripheral inputs. | Nillni EA | β | 2010 | β |
| Signal transduction in child health: closing the gap between clinical and basic research. | Chan L et al. | β | 2010 | β |
| The nature of the compensatory response to low thyroid hormone in the developing brain. | Sharlin DS et al. | β | 2010 | β |
| The role and potential sites of action of thyroid hormone in timing the onset of puberty in male primates. | Mann DR et al. | β | 2010 | β |
| The syndrome of inherited partial SBP2 deficiency in humans. | Dumitrescu AM et al. | β | 2010 | β |
| Thyroid hormone action during brain development: more questions than answers. | Horn S et al. | β | 2010 | β |
| Thyroid hormone-regulated mouse cerebral cortex genes are differentially dependent on the source of the hormone: a study in monocarboxylate transporter-8- and deiodinase-2-deficient mice. | Morte B et al. | β | 2010 | β |
| Thyroid hormone transporters in the brain. | Braun D et al. | β | 2010 | β |
| Transcriptional profiling of fibroblasts from patients with mutations in MCT8 and comparative analysis with the human brain transcriptome. | Visser WE et al. | β | 2010 | β |
| Transport of thyroid hormones is selectively inhibited by 3-iodothyronamine. | Ianculescu AG et al. | β | 2010 | β |
| A protective role for type 3 deiodinase, a thyroid hormone-inactivating enzyme, in cochlear development and auditory function. | Ng L et al. | β | 2009 | β |
| A thyroid hormone analog with reduced dependence on the monocarboxylate transporter 8 for tissue transport. | Di Cosmo C et al. | β | 2009 | β |
| Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. | Fuchs O et al. | β | 2009 | β |
| Evidence for a homodimeric structure of human monocarboxylate transporter 8. | Visser WE et al. | β | 2009 | β |
| For some, L-thyroxine replacement might not be enough: a genetic rationale. | Kim BW et al. | β | 2009 | β |
| Identification and characterization of 3-iodothyronamine intracellular transport. | Ianculescu AG et al. | β | 2009 | β |
| Importance of monocarboxylate transporter 8 for the blood-brain barrier-dependent availability of 3,5,3'-triiodo-L-thyronine. | Ceballos A et al. | β | 2009 | β |
| Magnetic resonance imaging and proton magnetic resonance spectroscopy of the brain in the diagnostic evaluation of developmental delay. | Verbruggen KT et al. | β | 2009 | β |
| Minireview: Pathophysiological importance of thyroid hormone transporters. | Heuer H et al. | β | 2009 | β |
| 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. | Wirth EK et al. | β | 2009 | β |
| Novel pathogenic mechanism suggested by ex vivo analysis of MCT8 (SLC16A2) mutations. | Visser WE et al. | β | 2009 | β |
| Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. | Vaurs-BarriΓ¨re C et al. | β | 2009 | β |
| Prevalence and functional analysis of the S107P polymorphism (rs6647476) of the monocarboxylate transporter 8 (SLC16A2) gene in the male population of north-west Spain (Galicia). | Lago-LestΓ³n R et al. | β | 2009 | β |
| The monocarboxylate transporter 8 and L-type amino acid transporters 1 and 2 are expressed in mouse skeletons and in osteoblastic MC3T3-E1 cells. | Capelo LP et al. | β | 2009 | β |
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