How do mutations in autophagy receptors cause FTD and ALS?

自噬受体突变如何导致 FTD 和 ALS？

• 批准号: nhmrc : 1102977
• 负责人: Dr Sarah Rea
• 金额: $ 38.89万
• 依托单位: The University of Western Australia
• 依托单位国家: 澳大利亚
• 项目类别: Targeted Calls
• 财政年份: 2016
• 资助国家: 澳大利亚
• 起止时间: 2016-01-01 至 2019-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/mutations-autophagy-receptors-ftd-als/662646
• 关键词: How; do; mutations; autophagy; receptors

As cells age the "garbage disposal" process within cells slows down, becoming less functional. In inherited forms of dementia the genes involved often code for damaged proteins that "clog up" the disposal system or directly affect the “garbage men”. These defective garbage men genes include SQSTM1/p62, OPTN, VCP and UBQLN2. We will determine how these defective genes lead to build up of garbage in neuronal cells and how leads to disease.

随着细胞老化，细胞内的“垃圾处理”过程减慢，功能变得不那么强大。在遗传性痴呆症中，相关的基因通常编码受损的蛋白质，这些蛋白质“堵塞”处理系统或直接影响“垃圾人”。这些有缺陷的垃圾人基因包括SQSTM 1/p62，OPTN，VCP和UBQLN 2。我们将确定这些缺陷基因如何导致神经元细胞中的垃圾堆积以及如何导致疾病。