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The Protein Translocation Defect of MCT8(L291R) Is Rescued by Sodium Phenylbutyrate
INTRODUCTION: The monocarboxylate transporter 8 (MCT8; SLC16A2) is a specific transporter for thyroid hormones. MCT8 deficiency, formerly known as the Allan-Herndon-Dudley syndrome, is a rare genetic disease that leads to neurological impairments and muscle weakness. Current experimental treatment o...
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| Publicado no: | Eur Thyroid J |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
S. Karger AG
2020
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7548921/ https://ncbi.nlm.nih.gov/pubmed/33088796 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1159/000507439 |
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