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

点击翻译按钮获取中文摘要

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.