MOUSE MODEL FOR DISEASES OF PROTEIN MISFOLDING

蛋白质错误折叠疾病的小鼠模型

• 批准号: 8357844
• 负责人: P. MICHAEL CONN
• 金额: $ 5.82万
• 依托单位: OREGON HEALTH & SCIENCE UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2011
• 资助国家: 美国
• 起止时间: 2011-05-01 至 2012-04-30
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/8357844
• 关键词: Affect; Alzheimer' s Disease; Biological Models; Cataract; Cell Culture Techniques; Cystic Fibrosis; Data; Digestive System Disorders; Disease; Enzymes; Funding; Grant; Huntington Disease; Klinefelter' s Syndrome; Laboratories; Malignant Neoplasms; Modeling; Mutation; National Center for Research Resources; Nephrogenic Diabetes Insipidus; Neurodegenerative Disorders; Parkinson Disease; Persons; Primates; Principal Investigator; Protein-Folding Disease; Proteins; Research; Research Infrastructure; Resources; Retinitis Pigmentosa; Rodent; Source; System; Translating; Translations; United States National Institutes of Health; cost; design; human disease; hypercholesterolemia; in vivo; loved ones; mouse model; protein folding; protein misfolding; prototype

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. Primary support for the subproject and the subproject's principal investigator may have been provided by other sources, including other NIH sources. The Total Cost listed for the subproject likely represents the estimated amount of Center infrastructure utilized by the subproject, not direct funding provided by the NCRR grant to the subproject or subproject staff. This project is designed to develop, characterize, compare and contrast two prototypes for a genetically modified mouse model for a human disease of protein folding. Diseases caused by misfolding include cystic fibrosis, hypogonadotropic hypogonadism, nephrogenic diabetes insipidus, retinitis pigmentosa, hypercholesterolemia, cataracts, neurodegenerative diseases (Huntington's, Alzheimer's and Parkinson's), particular cancers and a number of digestive disorders resulting from enzyme mutation. It is fair to say that virtually every person will be affected by protein folding diseases during his or her lifetime, either directly or due to the illness of a loved one. In spite of this, there are few model systems, and none in rodents, that allow the translation of the available cell-culture data on protein rescue into in vivo systems. A convenient laboratory model for the use of pharmacoperones will be designed in order to translate pharmacoperone use to treatment of human disease.

这个子项目是利用资源的许多研究子项目之一。 由NIH/NCRR资助的中心拨款提供。对子项目的主要支持 子项目的首席调查员可能是由其他来源提供的， 包括美国国立卫生研究院的其他来源。为子项目列出的总成本可能 表示该子项目使用的中心基础设施的估计数量， 不是由NCRR赠款提供给次级项目或次级项目工作人员的直接资金。 该项目旨在为人类蛋白质折叠疾病的转基因小鼠模型开发、表征、比较和对比两个原型。错误折叠导致的疾病包括囊性纤维化、促性腺激素减退、肾源性尿崩症、视网膜色素变性、高胆固醇血症、白内障、神经退行性疾病(亨廷顿氏症、阿尔茨海默氏症和帕金森氏症)、特殊癌症和一些由酶突变引起的消化疾病。公平地说，几乎每个人在他或她的有生之年都会受到蛋白质折叠疾病的影响，无论是直接还是由于亲人的疾病。尽管如此，很少有模型系统，也没有啮齿类动物的模型系统，可以将现有的细胞培养蛋白质拯救数据转化为体内系统。将设计一种使用药物操作酮的方便的实验室模型，以便将药物操作酮的使用转化为人类疾病的治疗。