The role of UPF3B and nonsense mediated mRNA decay surveillance in the pathology of intellectual disability.

UPF3B 和无意义介导的 mRNA 衰变监测在智力障碍病理学中的作用。

• 批准号: nhmrc : 1063808
• 负责人: Dr Lachlan Jolly
• 金额: $ 52.67万
• 依托单位: The University of Adelaide
• 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/role-upf3b-nonsense-intellectual-disability/455088
• 关键词: role; UPF3B; nonsense; mediated; mRNA

Proper functioning of the nonsense mediated mRNA decay (NMD or 'mRNA police') is crucial for any cell to ensure normal development and function. When NMD is compromised the outcome is learning and memory problems, autism or schizophrenia. Under this project we study malfunctioning NMD using stem and neuronal cells derived from patients' skin cells. Some of the affected genes might be considered for therapeutic interventions. NMD is relevant to 1000s of human disorders and as such it is of fundamental importance.

无义介导的mRNA衰变（NMD或“mRNA警察”）的正常功能对于任何细胞确保正常发育和功能至关重要。当NMD受损时，结果是学习和记忆问题，自闭症或精神分裂症。在这个项目中，我们使用来自患者皮肤细胞的干细胞和神经元细胞来研究功能失调的NMD。一些受影响的基因可能会被考虑用于治疗干预。NMD与数千种人类疾病相关，因此具有根本重要性。