期刊
JOURNAL OF BIOLOGICAL CHEMISTRY
卷 288, 期 1, 页码 169-180出版社
AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC
DOI: 10.1074/jbc.M112.413831
关键词
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资金
- SMILE Foundation
- Sherman family
- Israel Science Foundation [1705/11]
- Marie Curie Actions-International Reintegration Grant [FP7-PEOPLE-2010-RG 274333]
- Lymphatic Research Foundation
- Israeli Cancer Research Foundation
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 thatMCT8is a crucial regulator during embryonic development and establishes the first vertebrate model for MCT8 deficiency that exhibits a neurological phenotype.
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