Genetic disorders of thyroid development, hormone biosynthesis and signalling

C Moran, N Schoenmakers, WE Visser… - Clinical …, 2022 - Wiley Online Library
Abstract Development and differentiation of the thyroid gland is directed by expression of
specific transcription factors in the thyroid follicular cell which mediates hormone …

The role of SLC transporters for brain health and disease

YTK Nguyen, HTT Ha, TH Nguyen… - Cellular and Molecular Life …, 2022 - Springer
The brain exchanges nutrients and small molecules with blood via the blood–brain barrier
(BBB). Approximately 20% energy intake for the body is consumed by the brain. Glucose is …

Monocarboxylate transporter 8 deficiency: from pathophysiological understanding to therapy development

FS Van Geest, N Gunhanlar, S Groeneweg… - Frontiers in …, 2021 - frontiersin.org
Genetic defects in the thyroid hormone transporter monocarboxylate transporter 8 (MCT8)
result in MCT8 deficiency. This disorder is characterized by a combination of severe …

Movement disorders in MCT8 deficiency/Allan-Herndon-Dudley syndrome

S Masnada, C Sarret, CE Antonello, A Fadilah… - Molecular Genetics and …, 2022 - Elsevier
Background and objectives MCT8 deficiency is a rare genetic leukoencephalopathy caused
by a defect of thyroid hormone transport across cell membranes, particularly through blood …

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

S Groeneweg, FS van Geest, A Abacı… - The Lancet Diabetes & …, 2020 - thelancet.com
Background Disordered thyroid hormone transport, due to mutations in the SLC16A2 gene
encoding monocarboxylate transporter 8 (MCT8), is characterised by intellectual and motor …

MCT8 deficiency: the road to therapies for a rare disease

C Grijota-Martínez, S Bárez-López… - Frontiers in …, 2020 - frontiersin.org
Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the
SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a …

[HTML][HTML] Defective thyroid hormone transport to the brain leads to astroglial alterations

M Guillén-Yunta, Á García-Aldea… - Neurobiology of …, 2024 - Elsevier
Abstract Allan-Herndon-Dudley syndrome (AHDS) is a rare X-linked disorder that causes
severe neurological damage, for which there is no effective treatment. AHDS is due to …

Monocarboxylate transporter 8 deficiency: delayed or permanent hypomyelination?

P Vancamp, BA Demeneix, S Remaud - Frontiers in Endocrinology, 2020 - frontiersin.org
Monocarboxylate transporter 8 (MCT8) deficiency or the Allan-Herndon-Dudley Syndrome
(AHDS) is an X-linked psychomotor disability syndrome with around 320 clinical cases …

Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment

FS van Geest, S Groeneweg, WE Visser - Endocrine, 2021 - Springer
Defective thyroid hormone transport due to deficiency in thyroid hormone transporter
monocarboxylate transporter 8 (MCT8) results in severe neurodevelopmental delay due to …

Association of maternal thyroid peroxidase antibody during pregnancy with placental morphology and inflammatory and oxidative stress responses

X Ru, M Yang, Y Teng, Y Han, Y Hu, J Wang… - Frontiers in …, 2023 - frontiersin.org
Background Studies suggest that thyroid peroxidase antibody (TPOAb) positivity exposure
during pregnancy may contribute to changes in placental morphology and pathophysiology …