CRYSTAL STRUCTURE OF HUMAN GLYCYL-TRNA SYNTHETASE AND ITS MUTANTS

这个子项目是许多研究子项目中的一个 由NIH/NCRR资助的中心赠款提供的资源。子项目及 研究者（PI）可能从另一个NIH来源获得了主要资金， 因此可以在其他CRISP条目中表示。所列机构为 研究中心，而研究中心不一定是研究者所在的机构。 人类甘氨酰-tRNA合成酶，一种II类氨酰？tRNA合成酶是翻译途径中的一种必需酶，与周围神经系统（PNS）的一种遗传性神经疾病Charcot-Marie-Tooth（CMT）病有关。CMT是PNS中最常见的遗传性疾病，大约每2,500人中就有1人受到影响。GlyRS基因突变导致CMT 2型神经病（CMT 2D），由神经元固有缺陷引起。这些神经障碍的机制尚未完全了解。为了揭示CMT引起突变的可能结构影响，我们试图解决人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。

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.