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Mitochondrial aminoacyl-tRNA synthetases related to human diseases

文献类型：期刊论文

作者Zhou, XL; Wang, ED
刊名PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS
出版日期2008
卷号35期号:8页码:853-858
关键词mitochondrion aminoacyl-tRNA synthetase disease
通讯作者Wang, ED (reprint author), Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, State Key Lab Mol Biol, Shanghai 200031, Peoples R China.,edwang@sibs.ac.cn
英文摘要Aminoacyl-tRNA synthetase is a class of ancient proteins, catalyzing the first reaction of protein biosynthesis. It has been found that they also participate in a lot of other cellular processes such as editing, tRNA maturation and transfer, RNA cleavage and function as cellular factors. Recent studies showed that some mitochondrial aminoacyl-tRNA synthetases are closely related with human diseases. A single point mutation in intervening sequence 2 (IVS2) of human mitochondrial arginyl-tRNA synthetase gene causes abnormal cleavage of its transcript, resulting in pontocerebellar hypoplasia. A series of mutations in human mitochondrial aspartyl-tRNA synthetase gene cause rapid decay of its mRNA or alteration in protein primary sequence, leading to leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation. A single nucleotide polymorphism in human mitochondrial leucyl-tRNA synthetase is significantly associated with type 2 diabetes. These results further enhance our understanding about the cellular function of aminoacyl-tRNA synthetase and promote studies toward the mechanism and therapy of aminoacyl-tRNA synthetase-causing mitochondrial diseases.
学科主题Biochemistry & Molecular Biology; Biophysics
类目[WOS]Biochemistry & Molecular Biology ; Biophysics
关键词[WOS]PROTEIN-SYNTHESIS ; GENE ; NEUROPATHY ; EVOLUTION ; MUTATION ; STEM
收录类别SCI
语种中文
WOS记录号WOS:000258678400001
版本出版稿
源URL[http://202.127.25.143/handle/331003/1417]  
专题上海生化细胞研究所_上海生科院生化细胞研究所
推荐引用方式
GB/T 7714		 Zhou, XL,Wang, ED. Mitochondrial aminoacyl-tRNA synthetases related to human diseases[J]. PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS,2008,35(8):853-858.
APA Zhou, XL,&Wang, ED.(2008).Mitochondrial aminoacyl-tRNA synthetases related to human diseases.PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS,35(8),853-858.
MLA Zhou, XL,et al."Mitochondrial aminoacyl-tRNA synthetases related to human diseases".PROGRESS IN BIOCHEMISTRY AND BIOPHYSICS 35.8(2008):853-858.

入库方式： OAI收割

来源：上海生物化学与细胞生物学研究所

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