CRYSTAL STRUCTURE OF HUMAN GLYCYL-TRNA SYNTHETASE AND ITS MUTANTS

这个子项目是许多研究子项目中利用 资源由NIH/NCRR资助的中心拨款提供。子项目和 调查员(PI)可能从NIH的另一个来源获得了主要资金， 并因此可以在其他清晰的条目中表示。列出的机构是 该中心不一定是调查人员的机构。 人甘氨酰-tRNA合成酶是一种II类氨基酰tRNA合成酶，也是翻译途径中的一种重要酶，它与周围神经系统(PNS)Charcot-Marie-Tooth(CMT)病中的一种遗传性神经疾病有关。母婴传播疾病是PNS最常见的遗传病，大约每2500人中就有1人受到影响。GlyRS基因的突变导致CMT 2型神经病(CMT2D)，由神经元固有的缺陷引起。这些神经疾病的机制还没有完全了解。为了揭示CMT导致突变的可能结构影响，我们试图解决人类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。

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.