MOLECULAR BIOLOGY OF THE NUERONAL CEROID-LIPOFUSCINOSES

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 正在进行研究，以确定遗传性神经元蜡样脂褐质沉积症（NCL）的分子基础并开发动物模型。NCL是一组相似的致命性神经退行性疾病。在几种形式的NCL中有缺陷的基因已经被鉴定。我们正在使用基因靶向开发两种形式的NCL的小鼠基因敲除模型。这些小鼠模型将用于研究基因缺陷导致疾病病理学的机制。我们将使用超级计算资源主要用于基因数据库分析，并根据这些分析设计实验。

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.