Understanding the embryonic origins of cortical malformations

了解皮质畸形的胚胎起源

• 批准号: nhmrc : 1063080
• 负责人: A/Pr Helen Cooper
• 金额: $ 54.36万
• 依托单位: The University of Queensland
• 依托单位国家: 澳大利亚
• 项目类别: Project Grants
• 财政年份: 2014
• 资助国家: 澳大利亚
• 起止时间: 2014-01-01 至 2017-12-31
• 项目状态: 已结题
• 来源: https://researchdata.edu.au/understanding-embryonic-origins-cortical-malformations/455037
• 关键词: Understanding; embryonic; origins; cortical; malformations

Cortical malformation leads to mental retardation and epilepsy. Identification of the aberrant developmental processes contributing to these devastating syndromes is essential for accurate clinical assessment and development of novel therapeutics. Here we investigate a developmentally important receptor, Neogenin, which when mutated, leads to cortical malformations. Determining how Neogenin functions is expected to uncover new signaling pathways contributing to these malformations.

皮质畸形会导致智力低下和癫痫。鉴定导致这些破坏性综合征的异常发育过程对于准确的临床评估和新疗法的开发至关重要。在这里，我们调查一个发育重要的受体，再生素，当突变，导致皮质畸形。确定再生蛋白的功能有望揭示导致这些畸形的新信号通路。