LRRK2 IN PARKINSON'S DISEASE

这个子项目是许多利用资源的研究子项目之一 由NIH/NCRR资助的中心拨款提供。子项目的主要支持 而子项目的主要调查员可能是由其他来源提供的， 包括其它NIH来源。 列出的子项目总成本可能 代表子项目使用的中心基础设施的估计数量， 而不是由NCRR赠款提供给子项目或子项目工作人员的直接资金。 富含亮氨酸重复序列激酶2（LRRK 2）中的显性错义突变是帕金森病（PD）最常见的遗传原因，全基因组关联研究将LRRK 2序列变异确定为散发性PD的风险因素。完整的激酶功能似乎对LRRK 2 PD突变体的毒性至关重要，但我们对LRRK 2如何导致神经变性的理解是有限的。我们将使用电子断层扫描检查LRRK 2突变如何影响细胞的超微结构。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. Dominant missense mutations in leucine-rich repeat kinase 2 (LRRK2) are the most common genetic cause of Parkinson disease (PD) and genome wide association studies identify LRRK2 sequence variants as risk factors for sporadic PD. Intact kinase function appears critical for the toxicity of LRRK2 PD mutants, yet our understanding of how LRRK2 causes neurodegeneration is limited. We will examine how LRRK2 mutations affect the ultrastructure of cells using electron tomography.