Shiao Y. Chan, Laura A. Hancox, Azucena Martín-Santos, Laurence S. Loubière , Merlin N.M. Walter, Ana-Maria González, Phillip M. Cox, Ann Logan, Christopher J. McCabe , Jayne A. Franklyn, Mark D. Kilby Abstract: The importance of the thyroid hormone (TH) transporter, monocarboxylate transporter (MCT8), to human neurodevelopment is highlighted by findings of severe global neurological […]
Alfonso Massimiliano Ferrara, Xiao-Hui Liao, Pilar Gil-Ibáñez, Juan Bernal, Roy E. Weiss, Alexandra M. Dumitrescu, and Samuel Refetoff Abstract: MCT8deficiency causes severe X-linked intellectualandneuropsychological impairment associated with abnormal thyroid function tests (TFTs) producing thyroid hormone (TH) deprivation in brain and excess in peripheral tissues. The TH analogue diiodothyropropionic acid (DITPA) corrected the TFTs abnormalities and […]
Ba´rbara Nu´ n˜ ez, Raquel Martı´nez de Mena, Maria Jesus Obregon, Mariona Font-Llitjo´s, Virginia Nunes, Manuel Palacı´n, Alexandra M. Dumitrescu, Beatriz Morte, Juan Bernal Abstract: Thyroid hormone entry into cells is facilitated by transmembrane transporters. Mutations of the specific thyroid hormone transporter, MCT8 (Monocarboxylate Transporter 8, SLC16A2) cause an X-linked syndrome of profound neurological impairment […]
Filipa Rodrigues, Joana Grenha, Carlos Ortez, Andrés Nascimento, Beatriz Morte, Monica M-Belinchón, Judith Armstrong and Jaume Colomer Abstract: Background: Thyroid hormone is crucial in the development of different organs, particularly the brain. MCT8 is a specific transporter of triiodothyronine (T3) hormone and MCT8 gene mutations cause a rare X-linked disorder named MCT8 deficiency, also known […]
Simone Kersseboom, Sigrun Horn, W. Edward Visser, Jiesi Chen, Edith C. H. Friesema, Catherine Vaurs-Barrière, Robin P. Peeters, Heike Heuer, and Theo J. Visser Abstract: Monocarboxylate transporter 8 (MCT8) transports thyroid hormone (TH) across the plasma membrane. Mutations in MCT8 result in the Allan-Herndon-Dudley syndrome, comprising severe psychomotor retardation and elevated serum T3 levels. Because […]
Ulrich Schweizer, Jörg Johannes, Dorothea Bayer, Doreen Braun Abstract: Thyroid hormones (TH) cross the plasma membrane with the help of transporter proteins. As charged amino acid derivatives, TH cannot simply diffuse across a lipid bilayer membrane, despite their notorious hydrophobicity. The identification of monocarboxylate transporter 8 (MCT8, SLC16A2) as a specific and very active TH […]
Satoru Kobayashi MD, PhD, Akira Onuma MD, PhD, Takehiko Inui MD, Keisuke Wakusawa MD, PhD, Soichiro Tanaka MD, Keiko Shimojima MD, PhD, Toshiyuki Yamamoto MD, PhD, Kazuhiro Haginoya MD, PhD Abstract: BACKGROUND: Allan-Herndon-Dudley syndrome, an X-linked condition characterized by severe intellectual disability, dysarthria, athetoid movements, muscle hypoplasia, and spastic paraplegia, is associated with defects in […]
David Zada, Adi Tovin, Tali Lerer-Goldshtein, Gad David Vatine, Lior Appelbaum Abstract: The mechanisms and treatment of psychomotor retardation, which includes motor and cognitive impairment, are indefinite. The Allan-Herndon-Dudley syndrome (AHDS) is an X-linked psychomotor retardation characterized by delayed development, severe intellectual disability, muscle hypotonia, and spastic paraplegia, in combination with disturbed thyroid hormone (TH) […]
Steffen Mayerl, Julia Müller, Reinhard Bauer, Sarah Richert, Celia M. Kassmann, Veerle M. Darras, Katrin Buder, Anita Boelen, Theo J. Visser, and Heike Heuer Abstract: Allan-Herndon-Dudley syndrome (AHDS), a severe form of psychomotor retardation with abnormal thyroid hormone (TH) parameters, is linked to mutations in the TH-specific monocarboxylate transporter MCT8. In mice, deletion of Mct8 […]
Feng Mei, Stephen P J Fancy, Yun-An A Shen, Jianqin Niu, Chao Zhao, Bryan Presley, Edna Miao, Seonok Lee, Sonia R Mayoral Stephanie A Redmond, Ainhoa Etxeberria, Lan Xiao, Robin J M Franklin, Ari Green, Stephen L Hauser & Jonah R Chan Abstract: Functional screening for compounds that promote remyelination represents a major hurdle in […]