课题基金 / 基金详情

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

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
项目状态：
未结题
起止时间：
2022-10-01 至 2025-10-01
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

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中文摘要
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英文摘要
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
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