Identification of the molecular mechanisms by which mutations in FHL1 lead to protein misfolding and skeletal muscle disease

鉴定 FHL1 突变导致蛋白质错误折叠和骨骼肌疾病的分子机制

• 批准号: nhmrc : 1010655
• 负责人: Dr Meagan Mcgrath
• 金额: $ 40.64万
• 依托单位: Monash University
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2011
• 资助国家: 澳大利亚
• 起止时间: 2011-01-01 至 2013-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/identification-molecular-mechanisms-muscle-disease/109513
• 关键词: Identification; molecular; mechanisms; mutations; FHL1

Skeletal muscle diseases result in debilitating muscle loss and may result from an error (mutation) within a gene. Mutations in FHL1 were identified as the cause of four different muscle diseases. Using purified FHL1, skeletal muscle cells and animal models we will investigate how FHL1 mutations cause muscle wasting, and loss of muscle strength.

骨骼肌疾病会导致肌肉萎缩，可能是由于基因内的错误（突变）。FHL1的突变被确定为四种不同肌肉疾病的原因。使用纯化的FHL1，骨骼肌细胞和动物模型，我们将研究FHL1突变如何导致肌肉萎缩和肌肉力量的损失。