Improving the phenotypic severity of intellectual disability and seizures caused by expanded polyalanine tract mutations in the ARX homeobox transcription factor.

改善 ARX 同源盒转录因子中多聚丙氨酸束突变引起的智力障碍和癫痫发作的表型严重程度。

• 批准号: nhmrc : GNT1099538
• 负责人: A/Pr Cheryl Shoubridge
• 金额: $ 68.36万
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/improving-phenotypic-severity-transcription-factor/1346066
• 关键词: Improving; phenotypic; severity; intellectual; disability

Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is a gene mutated in X chromosome-linked intellectual disability and seizures. Our study will comprehensively address the basis for improvements to disease outcomes following treatment with steriod horomones in mice modelling these mutations. We will also address the mechanism contributing to disturbed protein function due to these expanded polyalanine tract mutations.

智力残疾在人群中很常见，世界上每50人中就有1人直接受到影响。ARX是一种与智力残疾和癫痫相关的X染色体突变基因。我们的研究将全面解决在模拟这些突变的小鼠中使用类固醇激素治疗后疾病结果改善的基础。我们还将讨论由于这些扩大的多丙氨酸通道突变而导致蛋白质功能紊乱的机制。