Tubulin Beta 4a in central nervous system development and disease

神经系统的发育和功能在很大程度上依赖于它的微管 细胞骨架。微管由多种α-和？微管蛋白亚型组装而成，这些亚型编码如下 分离的、进化上保守的基因。最近，Tubb4a(Tubb4a)微管蛋白的突变 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 导致这些疾病的Tubb4a基因尚不清楚。我们已经为Tubb4a相关的小鼠生成了一个模型 来自正向遗传筛查的发育障碍。我们的研究将引导我们深入了解这些机制 人类疾病谱的基本信息，以及微管在 哺乳动物的神经发育和功能。

Nervous system development and function is critically dependent upon its microtubule-based cytoskeleton. Microtubules are assembled from multiple α- and ß-tubulin isotypes which are encoded by separate, evolutionarily conserved genes. Recently, mutations in the Tubulin ß4a (Tubb4a) have been associated with a spectrum of neurological disorders in patients by sequencing studies. How mutations in the Tubb4a gene cause these disorders is not understood. We have generated a mouse model for Tubb4a-related developmental disorders from a forward genetic screen. 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.