4.7 Review

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Article Endocrinology & Metabolism

Human Type 1 Iodothyronine Deiodinase (DIO1) Mutations Cause Abnormal Thyroid Hormone Metabolism

Monica M. Franca et al.

Summary: Novel DIO1 pathogenic variants were identified and characterized in families with abnormal TH metabolism, demonstrating inherited D1 deficiency in humans for the first time. The mutant D1 proteins showed lower substrate affinity and slower enzyme velocity, leading to elevated serum reverse triiodothyronine levels and rT3/T3 ratios.

THYROID (2021)

Article Endocrinology & Metabolism

Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused byMCT8Gene Mutation

Samuel Refetoff et al.

Summary: This study demonstrates for the first time that prenatal treatment can improve neuromotor and neurocognitive function in MCT8 deficiency. Earlier treatment with TH analogues that concentrate in the fetus when given to the mother may further rescue the phenotype.

THYROID (2021)

Article Neurosciences

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

Gad D. Vatine et al.

Summary: Inactivating mutations in MCT8 lead to Allan Herndon Dudley syndrome, characterized by hypomyelination. Patient-derived iPSCs showed that MCT8 plays a role in oligodendrocyte maturation, but more research is needed to understand the impact of MCT8 deficiency.
Article Chemistry, Multidisciplinary

Participation of Monocarboxylate Transporter 8, But Not P-Glycoprotein, in Carrier-Mediated Cerebral Elimination of Phenytoin across the Blood-Brain Barrier

Ryuta Jomura et al.

Summary: The study investigated the transport of phenytoin across the blood-brain barrier (BBB), identifying that MCT8 participates in the efflux of phenytoin from the brain to the blood. Meanwhile, P-gp did not affect the efflux of phenytoin from the brain.

PHARMACEUTICAL RESEARCH (2021)

Article Endocrinology & Metabolism

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

Ferdy S. van Geest et al.

Summary: Genetic variants in the SLC16A2 gene can cause MCT8 deficiency, leading to intellectual and motor disabilities as well as abnormal thyroid function tests. Variants affecting the intracellular C-terminal tail of MCT8 are likely benign unless they cause frameshifts that elongate the MCT8 protein. These findings provide clinical guidance in assessing the pathogenicity of variants within the C-terminal domain of MCT8.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2021)

Review Endocrinology & Metabolism

Thyroid Hormone Transporters

Stefan Groeneweg et al.

ENDOCRINE REVIEWS (2020)

Article Endocrinology & Metabolism

Spatiotemporal Changes of Cerebral Monocarboxylate Transporter 8 Expression

Nina-Maria Wilpert et al.

THYROID (2020)

Article Cell & Tissue Engineering

Hippocampal Neurogenesis Requires Cell-Autonomous Thyroid Hormone Signaling

Steffen Mayerl et al.

STEM CELL REPORTS (2020)

Review Endocrinology & Metabolism

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?

Pieter Vancamp et al.

FRONTIERS IN ENDOCRINOLOGY (2020)

Article Endocrinology & Metabolism

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg et al.

LANCET DIABETES & ENDOCRINOLOGY (2020)

Article Multidisciplinary Sciences

Intranasal delivery of Thyroid hormones in MCT8 deficiency

Carmen Grijota-Martinez et al.

PLOS ONE (2020)

Article Endocrinology & Metabolism

Insights Into the Mechanism of MCT8 Oligomerization

Stefan Groeneweg et al.

JOURNAL OF THE ENDOCRINE SOCIETY (2020)

Review Endocrinology & Metabolism

Paradigms of Dynamic Control of Thyroid Hormone Signaling

Antonio C. Bianco et al.

ENDOCRINE REVIEWS (2019)

Article Anatomy & Morphology

Thyroid hormone availability in the human fetal brain: novel entry pathways and role of radial glia

Daniela Lopez-Espindola et al.

BRAIN STRUCTURE & FUNCTION (2019)

Article Clinical Neurology

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

Ganaelle Remeran et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2019)

Article Endocrinology & Metabolism

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

Stefan Groeneweg et al.

THYROID (2019)

Article Endocrinology & Metabolism

Sobetirome and its Amide Prodrug Sob-AM2 Exert Thyromimetic Actions in Mct8-Deficient Brain

Soledad Barez-Lopez et al.

THYROID (2018)

Article Endocrinology & Metabolism

An Essential Physiological Role for MCT8 in Bone in Male Mice

Victoria D. Leitch et al.

ENDOCRINOLOGY (2017)

Article Cell Biology

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

Stefan Groeneweg et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2017)

Editorial Material Endocrinology & Metabolism

Triiodothyroacetic Acid Treatment in MCT8 Deficiency: A Word of Nuance

W. Edward Visser et al.

THYROID (2016)

Article Medicine, General & Internal

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

Keiko Shimojima et al.

INTRACTABLE & RARE DISEASES RESEARCH (2016)

Article Endocrinology & Metabolism

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

Alfonso Massimiliano Ferrara et al.

ENDOCRINOLOGY (2015)

Review Endocrinology & Metabolism

Thyroid hormone transporters-functions and clinical implications

Juan Bernal et al.

NATURE REVIEWS ENDOCRINOLOGY (2015)

Article Endocrinology & Metabolism

Placenta Passage of the Thyroid Hormone Analog DITPA to Male Wild-Type and Mct8-Deficient Mice

Alfonso Massimiliano Ferrara et al.

ENDOCRINOLOGY (2014)

Article Endocrinology & Metabolism

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

Daniela Lopez-Espindola et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2014)

Article Medicine, Research & Experimental

Transporters MCT8 and OATP1C1 maintain murine brain thyroid hormone homeostasis

Steffen Mayer et al.

JOURNAL OF CLINICAL INVESTIGATION (2014)

Article Endocrinology & Metabolism

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

Simone Kersseboom et al.

MOLECULAR ENDOCRINOLOGY (2014)

Review Physiology

THYROID HORMONE REGULATION OF METABOLISM

Rashmi Mullur et al.

PHYSIOLOGICAL REVIEWS (2014)

Article Biochemistry & Molecular Biology

Zebrafish as a Model for Monocarboxyl Transporter 8-Deficiency

Gad David Vatine et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2013)

Review Endocrinology & Metabolism

Inherited defects of thyroid hormone-cell-membrane transport: review of recent findings

Jiao Fu et al.

CURRENT OPINION IN ENDOCRINOLOGY DIABETES AND OBESITY (2013)

Article Endocrinology & Metabolism

Diiodothyropropionic Acid (DITPA) in the Treatment of MCT8 Deficiency

Charles F. Verge et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2012)

Article Medicine, General & Internal

A Mutation in the Thyroid Hormone Receptor Alpha Gene

Elena Bochukova et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Letter Medicine, General & Internal

Clinical Phenotype and Mutant TRα1

Alies van Mullem et al.

NEW ENGLAND JOURNAL OF MEDICINE (2012)

Article Endocrinology & Metabolism

Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities

Hamilton Cabral de Menezes Filho et al.

ARQUIVOS BRASILEIROS DE ENDOCRINOLOGIA E METABOLOGIA (2011)

Article Clinical Neurology

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

Artemis D. Gika et al.

DEVELOPMENTAL MEDICINE AND CHILD NEUROLOGY (2010)

Article Endocrinology & Metabolism

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

Marija Trajkovic-Arsic et al.

ENDOCRINOLOGY (2010)

Article Pediatrics

Elevated TSH levels in a mentally retarded boy

Ellen Crushell et al.

EUROPEAN JOURNAL OF PEDIATRICS (2010)

Article Medicine, Research & Experimental

Mice deficient in MCT8 reveal a mechanism regulating thyroid hormone secretion

Caterina Di Cosmo et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Genetics & Heredity

Novel Pathogenic Mechanism Suggested by Ex Vivo Analysis of MCT8 (SLC16A2) Mutations

W. Edward Visser et al.

HUMAN MUTATION (2009)

Letter Medicine, General & Internal

Ending Propylthiouracil-Induced Liver Failure in Children.

Scott A. Rivkees et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Article Pharmacology & Pharmacy

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

Masuhiro Nishimura et al.

DRUG METABOLISM AND PHARMACOKINETICS (2008)

Article Endocrinology & Metabolism

Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8

Jurgen Jansen et al.

ENDOCRINOLOGY (2008)

Article Biochemistry & Molecular Biology

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

Suzanna Gerarda Maria Frints et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2008)

Article Endocrinology & Metabolism

Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8

J. L. Wemeau et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2008)

Article Endocrinology & Metabolism

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

Edith C. H. Friesema et al.

MOLECULAR ENDOCRINOLOGY (2008)

Article Medicine, Research & Experimental

Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8

Marija Trajkovic et al.

JOURNAL OF CLINICAL INVESTIGATION (2007)

Article Cell Biology

Functional neuroanatomy of thyroid hormone feedback in the human hypothalamus and pituitary gland

E Fliers et al.

MOLECULAR AND CELLULAR ENDOCRINOLOGY (2006)

Article Endocrinology & Metabolism

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

Alexandra M. Dumitrescu et al.

ENDOCRINOLOGY (2006)

Review Endocrinology & Metabolism

Mechanisms of disease: psychomotor retardation and high T-3 levels caused by mutations in monocarboxylate transporter 8

Edith C. H. Friesema et al.

NATURE CLINICAL PRACTICE ENDOCRINOLOGY & METABOLISM (2006)

Article Genetics & Heredity

Mutations in SECISBP2 result in abnormal thyroid hormone metabolism

AM Dumitrescu et al.

NATURE GENETICS (2005)

Article Genetics & Heredity

Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene

CE Schwartz et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2005)

Article Endocrinology & Metabolism

Neuroanatomical pathways for thyroid hormone feedback in the human hypothalamus

A Alkemade et al.

JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2005)

Article Biochemistry & Molecular Biology

Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter

ECH Friesema et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Review Physiology

Physiological and molecular basis of thyroid hormone action

PM Yen

PHYSIOLOGICAL REVIEWS (2001)