Investigating the pathogenic mechanisms of mutations in the ARX homeobox transcription factor

研究ARX同源盒转录因子突变的致病机制

• 批准号: nhmrc : 1063025
• 负责人: A/Pr Cheryl Shoubridge
• 金额: $ 39.76万
• 依托单位: The University of Adelaide
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/investigating-pathogenic-mechanisms-transcription-factor/454588
• 关键词: Investigating; pathogenic; mechanisms; mutations; ARX

Intellectual disability is frequent in the population with as many as 1 in every 50 people in the world directly affected. The cost to Australia of intellectual disability is estimated at $14 billion annually. 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 using cell models relevant to the brain to better understand the pathways and networks required for normal cognition.

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。据估计，澳大利亚每年因智力残疾而付出的代价为140亿美元。ARX是与智力障碍相关的X染色体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来专门解决这些突变的功能影响，以更好地理解正常认知所需的途径和网络。