The unfolded protein stress response in inherited skeletal disease: mechanism and therapeutic strategies

遗传性骨骼疾病中未折叠蛋白应激反应：机制和治疗策略

• 批准号: nhmrc : 607398
• 负责人: Prof John Bateman
• 金额: $ 36.61万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2010
• 资助国家: 澳大利亚
• 起止时间: 2010-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/unfolded-protein-stress-therapeutic-strategies/100335
• 关键词: unfolded; protein; stress; response; inherited

In genetic diseases, gene mutations commonly cause proteins to fold abnormally. This can cause cell stress resulting in cell death. Our studies will determine the role of cell stress in a clinically important group of skeletal diseases caused by collagen mutations. We will also test how we can use small chemicals to alleviate the damage done to the cells by the misfolded proteins, in the hope that this approach will provide new therapeutic strategies for these disorders.

在遗传性疾病中，基因突变通常会导致蛋白质异常折叠。这会导致细胞应激，导致细胞死亡。我们的研究将确定细胞应激在一组临床上重要的骨骼疾病中的作用，这些疾病是由胶原突变引起的。我们还将测试如何使用小的化学物质来减轻错误折叠的蛋白质对细胞造成的损害，希望这种方法将为这些疾病提供新的治疗策略。