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- W1963976116 abstract "Allan-Herndon-Dudley syndrome (AHDS) is a severe psychomotor retardation characterized by neurological impairment and abnormal thyroid hormone (TH) levels. Mutations in the TH transporter, monocarboxylate transporter 8 (MCT8), are associated with AHDS. MCT8 knock-out mice exhibit impaired TH levels; however, they lack neurological defects. Here, the zebrafish mct8 gene and promoter were isolated, and mct8 promoter-driven transgenic lines were used to show that, similar to humans, mct8 is primarily expressed in the nervous and vascular systems. Morpholino-based knockdown and rescue experiments revealed that MCT8 is strictly required for neural development in the brain and spinal cord. This study shows that MCT8 is a crucial regulator during embryonic development and establishes the first vertebrate model for MCT8 deficiency that exhibits a neurological phenotype." @default.
- W1963976116 created "2016-06-24" @default.
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- W1963976116 date "2013-01-01" @default.
- W1963976116 modified "2023-10-16" @default.
- W1963976116 title "Zebrafish as a Model for Monocarboxyl Transporter 8-Deficiency" @default.
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- W1963976116 doi "https://doi.org/10.1074/jbc.m112.413831" @default.
- W1963976116 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3537011" @default.
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