Charles F. Verge, Daniel Konrad, Michal Cohen, Caterina Di Cosmo, Alexandra M. Dumitrescu, Teresa Marcinkowski, Shihab Hameed, Jill Hamilton, Roy E. Weiss, and Samuel Refetoff Abstract: Context: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone-specific cell membrane transporter. MCT8 deficiency causes severe psychomotor retardation and abnormal thyroid tests. The great majority of affected children cannot […]
W. Edward Visser and Theo J. Visser Abstract: How does thyroid hormone (TH) find its way into the brain? Although it has been known for a long time thatTHis crucial for normal brain development, the exact molecular mechanisms involved in TH transport in the brain have remained elusive until recently. Early studies showed selective and […]
Amnon Zung, Theo J Visser, Andre´ G Uitterlinden, Fernando Rivadeneira and Edith C H Friesema Abstract: Objective: The monocarboxylate transporter 8 (MCT8; SLC16A2) has a pivotal role in neuronal triiodothyronine (T3) uptake. Mutations of this transporter determine a distinct X-linked psychomotor retardation syndrome (Allan–Herndon–Dudley syndrome (AHDS)) that is attributed to disturbed thyroid hormone levels, especially […]
Davide Tonduti,MD, Adeline Vanderver,MD, Angela Berardinelli,MD, Johanna L. Schmidt, MPH, MGC, Christin D. Collins, PhD, FACMG, Francesca Novara, PhD, Antonia Di Genni, MD, Alda Mita, MD, Fabio Triulzi, MD, Janice E. Brunstrom-Hernandez, MD, Orsetta Zuffardi, PhD, Umberto Balottin, MD, and Simona Orcesi, MD Abstract: Monocarboxylate transporter 8 (MCT8) deficiency is an X-linked disorder resulting from […]
Caterina Di Cosmo, Xiao-Hui Liao, Honggang Ye, Alfonso Massimiliano Ferrara, Roy E. Weiss, Samuel Refetoff, and Alexandra M. Dumitrescu Abstract: Children with monocarboxylate transporter 8 (MCT8) deficiency lose weight, even when adequately nourished. Changes in serum markers of thyroid hormone (TH) action compatible with thyrotoxicosis suggested that this might be due to T3 excess in […]
Alfonso Massimiliano Ferrara, Xiao-Hui Liao, Pilar Gil-Ibáñez, Teresa Marcinkowski, Juan Bernal, Roy E. Weiss, Alexandra M. Dumitrescu, Samuel Refetoff Abstract: Patients with the monocarboxylate transporter 8 (MCT8) deficiency syndrome presents with a severe psychomotor retardation and abnormal serum thyroid hormone (TH) levels, consisting of high T3 and low T4 and rT3. Mice deficient in Mct8 […]
Marjolein Heijlen, Anne M. Houbrechts, Veerle M. Darras Abstract: To unravel the role of thyroid hormones (THs) in vertebrate development it is important to have suitable animal models to study the mechanisms regulating TH availability and activity. Zebrafish (Danio rerio), with its rapidly and externally developing transparent embryo has been a widely used model in […]
Sigrun Horn, Simone Kersseboom, Steffen Mayerl, Julia Müller, Claudia Groba, Marija Trajkovic-Arsic, Tobias Ackermann, Theo J. Visser, and Heike Heuer Abstract: The monocarboxylate transporter 8 (MCT8) plays a critical role in mediating the uptake of thyroid hormones (THs) into the brain. In patients, inactivating mutations in the MCT8 gene are associated with a severe form […]
Loredana Boccone, Valentina Dessì, Antonella Meloni, Georgios Loudianos Abstract: Allan-Herndon-Dudley syndrome (AHDS), an X linked condition, is characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia and spastic paraplegia in combination with altered TH levels, in particular, high serum T3 levels. Mutations in the MCT8 gene coding for the monocarboxylate thyroid hormone transporter 8 […]
Simone Kersseboom, Gert-Jan Kremers, Edith C. H. Friesema, W. Edward Visser, Wim Klootwijk, Robin P. Peeters, and Theo J. Visser Abstract: Monocarboxylate transporter 8 (MCT8) is a thyroid hormone (TH)-specific transporter. Mutations in the MCT8 gene are associated with Allan-Herndon-Dudley Syndrome (AHDS), consisting of severe psychomotor retardation and disturbed TH parameters. To study the functional […]