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以微管为基础的细胞骨架。 微管由多种-和-微管蛋白亚型组装而成， 进化上保守的基因。最近，微管蛋白4家族(Tubb4a和Tubb4b)的突变已经被 通过测序研究与患者的一系列神经疾病相关。基因突变是如何发生的 Tubb4基因导致这些疾病的原因尚不清楚。我们已经生成了与Tubb4相关的小鼠模型 发育障碍。我们的研究将引导我们深入了解人类疾病的机制 光谱，以及关于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.