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.

该子项目是利用资源的众多研究子项目之一 由 NIH/NCRR 资助的中心拨款提供。子项目的主要支持 并且子项目的主要研究者可能是由其他来源提供的， 包括其他 NIH 来源。 子项目可能列出的总成本 代表子项目使用的中心基础设施的估计数量， NCRR 赠款不直接向子项目或子项目工作人员提供资金。 该项目旨在开发、表征、比较和对比用于人类蛋白质折叠疾病的转基因小鼠模型的两个原型。错误折叠引起的疾病包括囊性纤维化、低促性腺激素性性腺功能减退症、肾性尿崩症、色素性视网膜炎、高胆固醇血症、白内障、神经退行性疾病（亨廷顿病、阿尔茨海默病和帕金森病）、特定癌症和由酶引起的许多消化系统疾病 突变。可以公平地说，几乎每个人在一生中都会受到蛋白质折叠疾病的影响，无论是直接的还是由于亲人的疾病。尽管如此，很少有模型系统可以将蛋白质拯救的可用细胞培养数据转化为体内系统，啮齿类动物中也没有。将设计一个使用 Pharmaperone 的方便的实验室模型，以便将 Pharmaperone 的用途转化为治疗人类疾病。