Development and preclinical testing in human cell models and transgenic mice of a novel treatment for Schinzel-Giedion Syndrome

辛泽尔-吉迪翁综合征新疗法的开发和在人类细胞模型和转基因小鼠中的临床前测试

• 批准号: 430820
• 负责人: Ernst Carl P
• 金额: $ 16.39万
• 依托单位: CIUSSS de l'Ouest-de-l'Ile-de-Montral-Douglas Hospital
• 依托单位国家: 加拿大
• 项目类别: Operating Grants
• 财政年份: 2020
• 资助国家: 加拿大
• 起止时间: 2020-06-01 至 2023-06-01
• 项目状态: 已结题
• 来源: https://webapps.cihr-irsc.gc.ca/decisions/p/project_details.html?applId=430820&lang=en
• 关键词: Neurodegeneration; Pp2a; Seizures; Setbp1; Vesicle

Schinzel-Giedion Syndrome (SGS) is a rare disease usually leading to death in the first decade of life. SGS is caused by mutations in a gene called SETBP1, which increases the stability of the SETBP1 protein allowing it to continue carrying out its functi

Schinzel-Giedion综合征（SGS）是一种罕见的疾病，通常会导致生命的前十年死亡。SGS是由一个叫做SETBP 1的基因突变引起的，该基因突变增加了SETBP 1蛋白的稳定性，使其能够继续发挥其功能。