Investigating the pathogenic role of polyalanine tract expansion mutations in the ARX homeobox transcription factor.

研究 ARX 同源盒转录因子中多聚丙氨酸束扩展突变的致病作用。

• 批准号: nhmrc : 1002732
• 负责人: A/Pr Cheryl Shoubridge
• 金额: $ 36.38万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-pathogenic-role-transcription-factor/108855
• 关键词: Investigating; pathogenic; role; polyalanine; tract

Intellectual disability is frequent in the population, with as many as 1 in every 50 people in the world directly affected. ARX is one of the most frequent genes mutated in X chromosome-linked intellectual disability. Our study will specifically address the functional impact of these mutations in ARX using cell models relevant to the brain. We will also examine the contribution of other genetic changes to explain the very different symptoms seen in patients with the same gene mutation.

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X染色体相关智力残疾中最常见的突变基因之一。我们的研究将使用与大脑相关的细胞模型专门解决这些突变在ARX中的功能影响。我们还将检查其他基因变化的贡献，以解释在相同基因突变的患者中看到的非常不同的症状。