PATHOGENESIS OF BATTEN DISEASE

本项目旨在了解巴顿的生化病理。 疾病(一种毁灭性的精神发育迟滞综合征)，使用淋巴母细胞 患者和神经组织的细胞系和成纤维细胞培养 与其他项目中使用的文化相似。在婴儿期 表格(CLN1)我们将重点放在有缺陷的底物专一性上 棕榈酰基：蛋白质硫酯酶，储存材料和来源 这种储存材料来自神经膜的周转。在婴儿期晚期 表格(CLN2)我们将重点关注有缺陷的底物的专一性 胃抑素不敏感的羧基肽酶、其储存材料及其 源代码，并在青少年形式(CLN3)中，我们将重点介绍可能的角色 蛋白质基因产物在促进溶酶体中的蛋白质分解方面的作用。

This project is aimed at understanding the biochemical pathology of Batten disease (a devastating mental retardation syndrome), using lymphoblastoid cell lines and fibroblast cultures from patients and neural tissues cultures similar to those used in the other projects. In the infantile form (CLN1) we will focus on the substrate specificity on the defective palmitoyl: protein thioesterase, the storage material and the source of this storage material from neural membrane turnover. In the late infantile form (CLN2) we will focus on the substrate specificity of the defective pepstatin-insensitive carboxyl peptidase, the storage material and its source, and in the juvenile form (CLN3) we will focus on the possible role of the protein gene product in facilitating proteolysis in the lysosome.