CRYSTAL STRUCTURE OF HUMAN GLYCYL-TRNA SYNTHETASE AND ITS MUTANTS

人甘氨酰-TRNA合成酶及其突变体的晶体结构

• 批准号: 7598221
• 负责人: XIANGLEI YANG
• 金额: $ 0.02万
• 依托单位: STANFORD UNIVERSITY
• 依托单位国家: 美国
• 财政年份: 2007
• 资助国家: 美国
• 起止时间: 2007-03-01 至 2008-02-29
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/7598221
• 关键词: Affect; Amino Acyl-tRNA Synthetases; Charcot-Marie-Tooth Disease; Class; Computer Retrieval of Information on Scientific Projects Database; Defect; Enzymes; Funding; Genes; Glycine-tRNA Ligase; Grant; Hereditary Disease; Human; Inherited; Institution; Ligase; Mutation; Neurons; Neuropathy; Pathway interactions; Peripheral Nervous System; Research; Research Personnel; Resources; Role; Source; Structure; United States National Institutes of Health; mutant

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. Human glycyl-tRNA synthetase, a class II aminoacyl¿tRNA synthetase and an essential enzyme of the translational pathway, was found to be associated with a type of inherited neurodisorders in the peripheral nervous systems (PNS) Charcot-Marie-Tooth (CMT) diseases. CMTs represent the most common genetic diseases of the PNS, affecting approximately 1 in 2,500 people. Mutations in the GlyRS gene cause CMT type 2 neuropathies (CMT2D), arising from defects intrinsic to the neuron. The mechanisms of these neurodisorders are not fully understood. To reveal the possible structural impact of the CMT causing mutations, we seek to solve the crystal structures of human GlyRS and the mutants. This would help in understanding the role of GlyRS in CMT disease from the structural perspective.

该子项目是利用该技术的众多研究子项目之一 资源由 NIH/NCRR 资助的中心拨款提供。子项目和 研究者 (PI) 可能已从 NIH 的另一个来源获得主要资金， 因此可以在其他 CRISP 条目中表示。列出的机构是 对于中心来说，它不一定是研究者的机构。 人类甘氨酰-tRNA 合成酶是一种 II 类氨酰基-tRNA 合成酶，也是翻译途径的必需酶，被发现与周围神经系统 (PNS) 腓骨肌萎缩症 (CMT) 疾病中的一种遗传性神经疾病有关。 CMT 是最常见的 PNS 遗传病，影响约 2,500 人中的 1 人。 GlyRS 基因突变会导致 CMT 2 型神经病 (CMT2D)，这是由神经元固有缺陷引起的。这些神经疾病的机制尚不完全清楚。为了揭示 CMT 引起突变可能产生的结构影响，我们试图解析人类 GlyRS 和突变体的晶体结构。这将有助于从结构角度理解 GlyRS 在 CMT 疾病中的作用。