MCT8 Deficiency: The Road to Therapies for a Rare Disease

Allan-Herndon-Dudley syndrome is a rare disease caused by inactivating mutations in the SLC16A2 gene, which encodes the monocarboxylate transporter 8 (MCT8), a transmembrane transporter specific for thyroid hormones (T3 and T4). Lack of MCT8 function produces serious neurological disturbances, most...

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Detalles Bibliográficos
Autores principales: Grijota-Martínez, Carmen, Bárez-López, Soledad, Gómez-Andrés, David, Guadaño-Ferraz, Ana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198743/
https://www.ncbi.nlm.nih.gov/pubmed/32410949
http://dx.doi.org/10.3389/fnins.2020.00380

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7198743/
https://www.ncbi.nlm.nih.gov/pubmed/32410949
http://dx.doi.org/10.3389/fnins.2020.00380

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