Tubulin Beta 4a in central nervous system development and disease

微管蛋白 Beta 4a 在中枢神经系统发育和疾病中的作用

• 批准号: 9930405
• 负责人: Karel F Liem
• 金额: $ 6.1万
• 依托单位: YALE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2016
• 资助国家: 美国
• 起止时间: 2016-06-01 至 2021-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9930405
• 关键词: Cytoskeleton; Disease; Family; Genes; Genetic; Microtubules; Molecular; Mutation; Neuraxis; Neurophysiology - biologic function; Patients; Role; Therapeutic; Tubulin; base; beta Tubulin; developmental disease; human disease; insight; mouse model; nervous system development; nervous system disorder; neurodevelopment; novel

Project Summary Nervous system development and function is critically dependent upon its microtubule-based cytoskeleton. Microtubules are assembled from multiple - and -tubulin isotypes which are encoded by separate, evolutionarily conserved genes. Recently, mutations in the Tubulin 4 family (Tubb4a and Tubb4b) have been associated with a spectrum of neurological disorders in patients by sequencing studies. How mutations in the Tubb4 genes cause these disorders is not understood. We have generated mouse models for Tubb4-related developmental disorders. Our studies will lead to insights into the mechanisms of the human disease spectrum, as well as to fundamental information on the role of microtubules in mammalian neural development and function.

项目总结