The unfolded protein response in inherited musculoskeletal disease - mechanisms and therapeutic strategies

遗传性肌肉骨骼疾病中未折叠蛋白的反应 - 机制和治疗策略

• 批准号: nhmrc : 1049863
• 负责人: Prof John Bateman
• 金额: $ 42.92万
• 依托单位: Murdoch Childrens Research Institute
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2013
• 资助国家: 澳大利亚
• 起止时间: 2013-01-01 至 2015-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/unfolded-protein-response-therapeutic-strategies/112117
• 关键词: unfolded; protein; response; inherited; musculoskeletal

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 debilitating inherited bone and cartilage diseases caused by collagen mutations. Our studies will explore the mechanisms of how this stress causes the disease, but importantly will translate these findings by testing a new therapeutic strategy strengthen bones in brittle bone disease.

在遗传性疾病中，基因突变通常会导致蛋白质异常折叠。这可能导致细胞应激，导致细胞死亡。我们的研究将确定细胞应激在临床上重要的一组由胶原突变引起的衰弱性遗传性骨和软骨疾病中的作用。我们的研究将探索这种压力如何导致这种疾病的机制，但重要的是将通过测试一种新的治疗策略来转化这些发现，以加强脆骨疾病的骨骼。