Defining the role of glycosylation in basement membrane failure during muscular dystrophy

定义糖基化在肌营养不良症基底膜衰竭中的作用

• 批准号: nhmrc : GNT1127741
• 负责人: Prof Nicolle Packer
• 金额: $ 82.47万
• 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: 2017
• 资助国家: 澳大利亚
• 起止时间: 2017-01-01 至 无数据
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/defining-role-glycosylation-muscular-dystrophy/1347638
• 关键词: Defining; role; glycosylation; basement; membrane

This project aims to utilize mutations within the zebrafish fkrp gene to understand the pathogenic basis of the human diseases associated with mutation of this gene which results in a spectrum of muscular dystrophies. By generating models of alleles that represent the range of phenotypes seen in humans we will have a directly translatable model system to human pathology.

该项目旨在利用斑马鱼fkrp基因的突变来了解与该基因突变相关的人类疾病的致病基础，该基因突变导致一系列肌肉萎缩症。通过生成代表人类表型范围的等位基因模型，我们将有一个可直接翻译的人类病理学模型系统。