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...

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Autores principales:	Ferdy S. van Geest, Nilhan Gunhanlar, Stefan Groeneweg, W. Edward Visser
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Frontiers Media S.A. 2021-09-01
Colección:	Frontiers in Endocrinology
Materias:	MCT8 deficiency monocarboxylate transporter 8 Allan-Herndon-Dudley syndrome (AHDS) thyroid hormone transport thyroid hormone signaling
Acceso en línea:	https://www.frontiersin.org/articles/10.3389/fendo.2021.723750/full
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