Modeling Emery-Dreifuss muscular dystrophy in zebrafish

斑马鱼金刚砂肌营养不良症建模

• 批准号: nhmrc : GNT1085310
• 负责人: Prof Colin Stewart
• 金额: $ 44.58万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2015
• 资助国家: 澳大利亚
• 起止时间: 2015-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/modeling-emery-dreifuss-dystrophy-zebrafish/1345613
• 关键词: Modeling; Emery; Dreifuss; muscular; dystrophy

Emery-Dreifuss muscular dystrophy (EDMD) is a muscle degenerative disease characterised by specific muscle degeneration. Human genetic studies have identified specific genes that are mutated in patients with EDMD. We have generated zebrafish models of the most common forms of EDMD and propose to use these models to determine how mutations in these genes contributes to a lack of muscle integrity in this muscular dystrophy.

Emery-Dreifuss肌营养不良症（EDMD）是一种以特异性肌肉变性为特征的肌肉退行性疾病。人类遗传学研究已经确定了EDMD患者中突变的特定基因。我们已经生成了最常见的EDMD形式的斑马鱼模型，并建议使用这些模型来确定这些基因中的突变如何导致这种肌营养不良症中肌肉完整性的缺乏。