ALPHA-GALACTOSIDASES A & B: MOLECULAR AND CELLULAR MECHANISMS

α-半乳糖苷酶 A

• 批准号: 7953649
• 负责人: Brian Martin Kirmse
• 金额: $ 7.85万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2009
• 资助国家: 美国
• 起止时间: 2009-03-01 至 2009-07-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7953649
• 关键词: Alpha-galactosidase; Clinical Research; Computer Retrieval of Information on Scientific Projects Database; Disease; Enzymes; Evaluation; Fabry Disease; Funding; Gene Mutation; Grant; Institution; Molecular; Research; Research Personnel; Resources; Source; Techniques; United States National Institutes of Health; enzyme replacement therapy; gene cloning

This subproject is one of many research subprojects utilizing the resources provided by a Center grant funded by NIH/NCRR. The subproject and investigator (PI) may have received primary funding from another NIH source, and thus could be represented in other CRISP entries. The institution listed is for the Center, which is not necessarily the institution for the investigator. The purpose of this study is to use the recently cloned gene for alpha-galactosidase A to study Fabry disease at the molecular level. Efforts will be directed to identify the different disease gene mutations and to use molecular biologic techniques to produce large amounts of the enzyme for evaluation of enzyme replacement therapy.

该副本是利用众多研究子项目之一 由NIH/NCRR资助的中心赠款提供的资源。子弹和 调查员（PI）可能已经从其他NIH来源获得了主要资金， 因此可以在其他清晰的条目中代表。列出的机构是 对于中心，这不一定是调查员的机构。 这项研究的目的是将最近克隆的基因用于α-半乳糖苷酶A在分子水平上研究Fabry疾病。 将努力识别不同的疾病基因突变，并使用分子生物学技术生产大量酶来评估酶替代疗法。