Modeling human Actin Related Protein 2/3 Complex subunit 1B (ARPC1B) deficiency in mice

在小鼠中模拟人肌动蛋白相关蛋白 2/3 复合体亚基 1B (ARPC1B) 缺陷

• 批准号: nhmrc : 1144684
• 负责人: Dr Anselm Enders
• 金额: $ 51.05万
• 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: 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/modeling-human-actin-deficiency-mice/1320250
• 关键词: Modeling; human; Actin; Related; Protein

The actin cytoskeleton forms the structure that not only keeps cells in their normal shape but is also essential for the movement of cells and for interaction between cells. We have recently identified the first patients with an immunodeficiency caused by a defect in a gene called ARPC1B, which plays a crucial role in the regulation of actin. Through the investigation of novel mouse models we will elucidate the pathomechanism underlying the disease of these patients.

肌动蛋白细胞骨架形成的结构不仅使细胞保持正常形状，而且对细胞的运动和细胞之间的相互作用也是必不可少的。我们最近发现了第一批由ARPC1B基因缺陷引起的免疫缺陷患者，ARPC1B基因在肌动蛋白的调节中起着关键作用。通过对新的小鼠模型的研究，我们将阐明这些患者疾病背后的病理机制。