Investigating the role of POLR3 in oligodendrocyte-lineage development and myelination in vivo: Translational disease models and proof-of-concept for using in vivo gene therapy to treat POLR3-related Hypomyelinating Leukodystrophy.

研究 POLR3 在体内少突胶质细胞谱系发育和髓鞘形成中的作用：转化疾病模型和使用体内基因疗法治疗 POLR3 相关的低髓鞘性脑白质营养不良的概念验证。

• 批准号: 415860
• 负责人: Michell-Robinson Mackenzie A
• 金额: $ 10.93万
• 依托单位: McGill University
• 依托单位国家: 加拿大
• 项目类别: Studentship Programs
• 财政年份: 2019
• 资助国家: 加拿大
• 起止时间: 2019-11-01 至 2022-11-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=415860&lang=en
• 关键词: Adeno-Associated Virus; Animal Models Of Cns Disease; In Vitro Models Of Cns Disease; Lineage Development; Myelination; Neurodegenerative Disease; Neurodevelopment; Pediatric Disease; Translational Research; White Matter Disease

Leukodystrophies are a group of rare genetic diseases affecting brain development that collectively occur in 1:7500 individuals. Children with leukodystrophy grow normally until they develop neurological signs, especially movement problems. Based on medic

脑白质营养不良是一组罕见的影响大脑发育的遗传性疾病，共同发生在1：7500人中。患有脑白质营养不良的儿童发育正常，直到出现神经体征，尤其是运动问题。基于医疗队