Protein prenylation and inflammation: new insights into the pathophysiology and treatment of mevalonate kinase deficiency

蛋白质异戊二烯化和炎症：甲羟戊酸激酶缺乏症的病理生理学和治疗的新见解

• 批准号: nhmrc : 1139644
• 负责人: Dr Elissa Deenick
• 金额: $ 48.39万
• 依托单位: Garvan Institute of Medical Research
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2018
• 资助国家: 澳大利亚
• 起止时间: 2018-01-01 至 2020-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/protein-prenylation-inflammation-kinase-deficiency/1319050
• 关键词: Protein; prenylation; inflammation; new; insights

This project is focused on a genetic, potentially fatal, inflammatory disease that appears in infancy. We have developed a new way of detecting the underlying defect as well as the first animal models that have the same genetic mutations and mimic the disease. With these revolutionary new approaches, we will discover the exact cause of the inflammation, test a new way of diagnosing the disease, and identify new and better therapies that treat the underlying cause rather than just the symptoms.

该项目的重点是一种在婴儿期出现的遗传性、潜在致命性、炎症性疾病。我们已经开发出一种新的方法来检测潜在的缺陷，以及第一个具有相同基因突变并模仿疾病的动物模型。通过这些革命性的新方法，我们将发现炎症的确切原因，测试诊断疾病的新方法，并确定治疗根本原因而不仅仅是症状的新的更好的疗法。