Role of Senataxin in protecting against neurodegeneration

Senataxin 在预防神经退行性疾病中的作用

• 批准号: nhmrc : 631407
• 负责人: Prof Martin Lavin
• 金额: $ 35.99万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: NHMRC Project Grants
• 财政年份: 2010
• 资助国家: 澳大利亚
• 起止时间: 2010-01-01 至 2012-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/role-senataxin-protecting-neurodegeneration/95111
• 关键词: Role; Senataxin; protecting; against; neurodegeneration

A number of rare autosomal recessive ataxias have been described that overlap in their clinical phenotype. A subgroup of these have in common a reduced capacity to deal with damage to the genome which is associated with neurodegeneration. We are characterising the protein (senataxin) defective in one of these syndromes, ataxia oculomotor apraxia type 2 (AOA2). We have generated a mouse model of setx the gene coding for senataxin which will assist in our understanding of this disease.

一些罕见的常染色体隐性遗传性共济失调已被描述，其临床表型重叠。其中一个亚组的共同点是处理与神经变性相关的基因组损伤的能力降低。我们正在描述这些综合征之一的蛋白质（senataxin）缺陷，共济失调眼用不能2型（AOA2）。我们已经建立了一个小鼠模型setx的基因编码的senataxin这将有助于我们了解这种疾病。