Role of the 72kDa 5-phosphatase in human diseases

72kDa 5-磷酸酶在人类疾病中的作用

• 批准号: nhmrc : 606402
• 负责人: A/Pr Ian Smyth
• 金额: $ 45.97万
• 依托单位: Monash University
• 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-72kda-5-human-diseases/96181
• 关键词: Role; 72kDa; phosphatase; human; diseases

We have identified a novel gene, Inpp5e, that when mutated causes a disease similar to Joubert syndrome and MORMS disease which leads to abnormal movements, developmental delays, mental retardation, abnormal breathing and eye movement. We have identified a candidate gene for these diseases and have shown that deletion of this gene in mice results in similar pathology. We aim to determine the mechanism by which Inpp5e regulates human development and disease.

我们已经确定了一种新的基因Inpp5e，当它发生突变时，会导致一种类似于Joubert综合征和MORMS疾病的疾病，这种疾病会导致异常运动、发育迟缓、智力迟钝、呼吸和眼球运动异常。我们已经确定了这些疾病的候选基因，并表明在小鼠中删除该基因会导致类似的病理。我们的目标是确定Inpp5e调控人类发育和疾病的机制。