Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development

Monocarboxylate Transporter 8 Deficiency: From Pathophysiological Understanding to Therapy Development

Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8) result in MCT8 deficiency. This disorder is characterized by a combination of severe intellectual and motor disability, caused by decreased cerebral thyroid hormone signalling, and a chronic thyrotoxic state in p...

Full description

Bibliographic Details
Main Authors:	Ferdy S. van Geest, Nilhan Gunhanlar, Stefan Groeneweg, W. Edward Visser
Format:	Article
Language:	English
Published:	Frontiers Media S.A. 2021-09-01
Series:	Frontiers in Endocrinology
Subjects:	MCT8 deficiency monocarboxylate transporter 8 Allan-Herndon-Dudley syndrome (AHDS) thyroid hormone transport thyroid hormone signaling
Online Access:	https://www.frontiersin.org/articles/10.3389/fendo.2021.723750/full

Similar Items

In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity
by: Nádia Silva, et al.
Published: (2023-05-01)

Corrigendum: In a zebrafish biomedical model of human Allan-Herndon-Dudley syndrome impaired MTH signaling leads to decreased neural cell diversity
by: Nádia Silva, et al.
Published: (2023-05-01)

Monocarboxylate Transporter 8 Deficiency: Delayed or Permanent Hypomyelination?
by: Pieter Vancamp, et al.
Published: (2020-05-01)

Mathematical modeling and simulation of thyroid homeostasis: Implications for the Allan-Herndon-Dudley syndrome
by: Tobias M. Wolff, et al.
Published: (2022-12-01)

Diagnosis and Therapy in MCT8 Deficiency: Ongoing Challenges
by: Matthijs E.T. Freund, et al.
Published: (2024-03-01)

Overcoming Monocarboxylate Transporter 8 (MCT8)-Deficiency to Promote Human Oligodendrocyte Differentiation and Myelination
by: Jae Young Lee, et al.
Published: (2017-11-01)

Pharmacological treatment and BBB-targeted genetic therapy for MCT8-dependent hypomyelination in zebrafish
by: David Zada, et al.
Published: (2016-11-01)

Characteristics of Allan-Herndon-Dudley Syndrome in Chinese children: Identification of two novel pathogenic variants of the SLC16A2 gene
by: Qiang Zhang, et al.
Published: (2022-11-01)

Validation of Mct8/Oatp1c1 dKO mice as a model organism for the Allan-Herndon-Dudley Syndrome
by: Gandhari Maity-Kumar, et al.
Published: (2022-12-01)

Generation of iPSC lines with SLC16A2:G401R or SLC16A2 knock out
by: Katarzyna Anna Ludwik, et al.
Published: (2023-12-01)

Impact of Early Intervention with Triiodothyroacetic Acid on Peripheral and Neurodevelopmental Findings in a Boy with MCT8 Deficiency
by: Yağmur Ünsal, et al.
Published: (2024-03-01)

Triac Treatment Prevents Neurodevelopmental and Locomotor Impairments in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice
by: Jiesi Chen, et al.
Published: (2023-02-01)

Distinct Actions of the Thyroid Hormone Transporters Mct8 and Oatp1c1 in Murine Adult Hippocampal Neurogenesis
by: Steffen Mayerl, et al.
Published: (2022-02-01)

A novel variant in SLC16A2 associated with typical Allan-Herndon-Dudley syndrome: a case report
by: Xiaodan Chen, et al.
Published: (2022-04-01)

The Role of Thyroid Function Tests in Diagnosing Allan-herndon-dudley Syndrome Revisited: A Novel Iran-based Mutation
by: Shahab Noorian, et al.
Published: (2021-07-01)

A CRISPR/Cas9-engineered avatar mouse model of monocarboxylate transporter 8 deficiency displays distinct neurological alterations
by: Víctor Valcárcel-Hernández, et al.
Published: (2022-11-01)

Genetic and Neurological Deficiencies in the Visual System of <i>mct8</i> Mutant Zebrafish
by: Rotem Rozenblat, et al.
Published: (2022-02-01)

TRIAC Treatment Improves Impaired Brain Network Function and White Matter Loss in Thyroid Hormone Transporter Mct8/Oatp1c1 Deficient Mice
by: Jonathan Rochus Reinwald, et al.
Published: (2022-12-01)

Neurovascular unit disruption and blood–brain barrier leakage in MCT8 deficiency
by: Marina Guillén-Yunta, et al.
Published: (2023-11-01)

The Differential Effect of a Shortage of Thyroid Hormone Compared with Knockout of Thyroid Hormone Transporters Mct8 and Mct10 on Murine Macrophage Polarization
by: Esmée Hoen, et al.
Published: (2024-02-01)

Thyroid hormone-dependent oligodendroglial cell lineage genomic and non-genomic signaling through integrin receptors
by: Rahimeh Emamnejad, et al.
Published: (2022-09-01)

Distribution of Monocarboxylate Transporters in Brain and Choroid Plexus Epithelium
by: Masaki Ueno, et al.
Published: (2023-07-01)

Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Projection Neurons and Interneurons of Basal Ganglia and Motor Thalamus in the Adult Human and Macaque Brains
by: Ting Wang, et al.
Published: (2023-06-01)

Thyroid Hormone Transporters MCT8 and OATP1C1 Are Expressed in Pyramidal Neurons and Interneurons in the Adult Motor Cortex of Human and Macaque Brain
by: Yu Wang, et al.
Published: (2023-02-01)

Insights on the role of thyroid hormone transport in neurosensory organs and implication for the Allan–Herndon–Dudley syndrome
by: Ángel García-Aldea, et al.
Published: (2024-03-01)

Effect of Sex and Cross-Sex Hormone Treatment on Renal Monocarboxylate-Transporter Expression in Rats
by: Hao Wei, et al.
Published: (2023-09-01)

Thyroid Hormone Transporters in Pregnancy and Fetal Development
by: Zhongli Chen, et al.
Published: (2022-12-01)

Natural Autoimmunity to the Thyroid Hormone Monocarboxylate Transporters MCT8 and MCT10
by: Theresa Porst, et al.
Published: (2021-04-01)

Intratumoral reciprocal expression of monocarboxylate transporter 4 and glypican-3 in hepatocellular carcinomas
by: Kenji Yorita, et al.
Published: (2019-11-01)

Monocarboxylate Transporters 1 and 4 and Prognosis in Small Bowel Neuroendocrine Tumors
by: Niko Hiltunen, et al.
Published: (2022-05-01)

Allan-Herndon-Dudley syndrome in a female patient and related mechanisms
by: Caroline Olivati, et al.
Published: (2022-06-01)

Thyroid hormone transporter Mct8/Oatp1c1 deficiency compromises proper oligodendrocyte maturation in the mouse CNS
by: Steffen Mayerl, et al.
Published: (2023-08-01)

Monocarboxylate Transporter 1 May Benefit Cerebral Ischemia via Facilitating Lactate Transport From Glial Cells to Neurons
by: Mao Zhang, et al.
Published: (2022-04-01)

The Thyroid Hormone Transporter Mct8 Restricts Cathepsin-Mediated Thyroglobulin Processing in Male Mice through Thyroid Auto-Regulatory Mechanisms That Encompass Autophagy
by: Vaishnavi Venugopalan, et al.
Published: (2021-01-01)

Effects of mobile phone electromagnetic radiation on thyroid glands and hormones in Rattus norvegicus brain: An analysis of thyroid function, reactive oxygen species, and monocarboxylate transporter 8
by: Hendra Zufry, et al.
Published: (2023-01-01)

Axonal T3 uptake and transport can trigger thyroid hormone signaling in the brain
by: Federico Salas-Lucia, et al.
Published: (2023-05-01)

Heterogeneous Clinical Characteristics of Allan-Herndon-Dudley Syndrome with SLC16A2 Mutations
by: Ji Yeon Han, et al.
Published: (2021-10-01)

Reduced expression of thyroid hormone receptor β in human nonalcoholic steatohepatitis
by: Christin Krause, et al.
Published: (2018-12-01)

Importance of lactate dehydrogenase (LDH) and monocarboxylate transporters (MCTs) in cancer cells
by: Hamed Hatami, et al.
Published: (2023-01-01)

Thyroid Hormone Hyposensitivity: From Genotype to Phenotype and Back
by: Giuditta Rurale, et al.
Published: (2020-01-01)