Determining the environmental modifiers and molecular mechanisms of liver disease in X-linked myotubular myopathy.

确定 X 连锁肌管肌病肝病的环境调节剂和分子机制。

• 批准号: 473683
• 负责人: Pannia Emanuela
• 金额: $ 9.83万
• 依托单位: Hospital for Sick Children (Toronto)
• 依托单位国家: 加拿大
• 项目类别: Fellowship Programs
• 财政年份: 2022
• 资助国家: 加拿大
• 起止时间: 2022-10-01 至 2025-10-01
• 项目状态: 未结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=473683&lang=en
• 关键词: Aav Therapy; Environment X Gene Interaction; Epigenome; Immune System; Liver Disease; Metabolism; Myotubular Myopathy; Nutrition; Preclinical Models; Transcriptomics

X-linked Myotubular myopathy (XLMTM) is a devastating childhood genetic disease that affects mostly boys and is caused by mutations in the myotubularin (MTM1) gene. Patients with this disease have severely impaired skeletal muscle function, often needing

x连锁肌小管肌病（XLMTM）是一种毁灭性的儿童遗传性疾病，主要影响男孩，由肌小管蛋白（MTM1）基因突变引起。患有此病的患者骨骼肌功能严重受损，经常需要