Models of Photoreceptor Disease

光感受器疾病模型

• 批准号: 6875567
• 负责人: TIANSEN LI
• 金额: $ 34.9万
• 依托单位: HARVARD MEDICAL SCHOOL
• 依托单位国家: 美国
• 财政年份: 1994
• 资助国家: 美国
• 起止时间: 1994-02-01 至 2009-03-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/6875567
• 关键词: cell biology; cilium; electroretinography; gene expression profiling; genetic models; genetically modified animals; immunoelectron microscopy; immunofluorescence technique; laboratory mouse; membrane proteins; protein localization; protein protein interaction; protein structure function; protein transport; retina degeneration; rod cell; visual photoreceptor

DESCRIPTION (provided by applicant): Hereditary photoreceptor degeneration is a group of blinding retinal diseases with diverse genetic origins. We propose to perform functional studies of several proteins known or postulated to have essential roles in photoreceptors. Emphasis is placed on the connecting cilium and the mammalian equivalent of a periciliary ridge complex, and their roles in membrane protein transport to the outer segment and disc morphogenesis. The proposed research will study RPGR, RPGRIP and Tubby-like proteins, hypothesized to function in the above processes. Our approaches are based on analyses of in vivo genetic models complemented by in vitro cell biological studies. The proposed efforts should contribute to our understanding of disease mechanisms underlying photoreceptor degeneration, and advance our knowledge concerning important and lesser understood aspects of photoreceptor cell biology.

描述（由申请人提供）：遗传性感光器变性是一组具有不同遗传起源的致盲性视网膜疾病。我们建议对已知或假定在光感受器中具有重要作用的几种蛋白质进行功能研究。重点放在连接纤毛和哺乳动物等效的纤毛周脊复合体上，以及它们在膜蛋白转运到外节和椎间盘形态发生中的作用。拟议的研究将研究 RPGR、RPGRIP 和 Tubby 样蛋白，假设它们在上述过程中发挥作用。我们的方法基于体内遗传模型的分析，并辅以体外细胞生物学研究。所提出的努力应有助于我们了解光感受器变性的疾病机制，并增进我们对光感受器细胞生物学的重要和鲜为人知的方面的了解。