PATHOGENESIS OF BATTEN DISEASE

Batten 病的发病机制

• 批准号: 6301855
• 负责人: Glyn Dawson
• 金额: $ 18.39万
• 依托单位: UNIVERSITY OF CHICAGO
• 依托单位国家: 美国
• 财政年份: 2000
• 资助国家: 美国
• 起止时间: 2000-01-01 至 2000-12-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6301855
• 关键词: apoptosis; ceramides; chick embryo; clinical research; developmental neurobiology; enzyme activity; esterase; gene mutation; human tissue; molecular pathology; neuronal ceroid lipofuscinosis; palmitates; peptidases; sphingomyelin phosphodiesterase; tissue /cell culture

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.

本项目旨在了解Batten的生化病理