Tubulin Beta 4a in central nervous system development and disease

项目摘要 神经系统的发育和功能严重依赖于其基于微管的细胞骨架。 微管由多种β-和β-微管蛋白同种型组装而成， 进化保守基因最近，微管蛋白Tubb 4家族（Tubb 4a和Tubb 4 b）的突变已经被发现。 通过测序研究发现，与患者的神经系统疾病谱相关。基因突变 Tubb 4基因导致这些疾病尚不清楚。我们已经生成了Tubb 4相关的小鼠模型， 发育障碍我们的研究将有助于深入了解人类疾病的机制 光谱，以及微管在哺乳动物神经发育中的作用的基本信息 和功能

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.