MOLECULAR BIOLOGY OF THE NUERONAL CEROID-LIPOFUSCINOSES

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 目前正在进行研究，以确定遗传性神经元蜡样脂褐素增多症(NCLS)的分子基础并建立动物模型。NCLS是一组类似的致命性神经退行性疾病。在几种形式的NCL中存在缺陷的基因已经被识别出来。我们正在使用基因打靶技术来开发两种形式的NCL的小鼠基因敲除模型。这些小鼠模型将被用于研究基因缺陷导致疾病病理的机制。我们将主要将超级计算资源用于遗传数据库分析，并在这些分析的基础上设计实验。

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. Research is being conducted to determine the molecular basis of and to develop animal models for the hereditary neuronal ceroid lipofuscinoses ( NCLs). The NCLs are a group of similar fatal neurodegenerative disorders. The genes that are defective in several forms of NCL have been identified. We are using gene targeting to develop mouse gene knockout models for two forms of NCL. These mouse models will be used to study the mechanisms by which the gene defects lead to the disease pathology. We will use the supercomputing resource primarily for genetic database analyses and to design experiments based on these analyses.