Mutations in ubiquitin proteasome pathway genes as a cause of frontotemporal dementia and motor neuron disease

泛素蛋白酶体途径基因突变是额颞叶痴呆和运动神经元疾病的原因

• 批准号: nhmrc : 1062539
• 负责人: A/Pr John Kwok
• 金额: $ 42.67万
• 依托单位: Australian National University
• 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 2018-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/mutations-ubiquitin-proteasome-neuron-disease/455002
• 关键词: Mutations; ubiquitin; proteasome; pathway; genes

This project aims to identify genes that are mutated in families affected with dementia and motor neuron disease, and to determine whether the same genes are responsible for disease in large collections of patients with similar disorders. Identifying these genes will reveal what biological processes can lead to brain and nerve cell degeneration, providing knowledge important for development of new treatments for the many people worldwide affected with these disorders.

该项目旨在确定患有痴呆症和运动神经元疾病的家庭中发生突变的基因，并确定相同的基因是否对大量患有类似疾病的患者的疾病负责。识别这些基因将揭示导致大脑和神经细胞退化的生物学过程，为开发新的治疗方法提供重要的知识，以治疗世界各地受这些疾病影响的许多人。