Kinetic and structural changes in H smt PheRS, induced by pathogenic mutations in human FARS 2

Author:

Kartvelishvili Ekaterine1,Tworowski Dmitry1,Vernon Hilary2,Moor Nina3,Wang Jing45,Wong Lee-Jun5,Chrzanowska-Lightowlers Zofia6,Safro Mark1

Affiliation:

1. Department of Structural Biology; Weizmann Institute of Science; Israel

2. McKusick-Nathans Institute of Genetic Medicine; Johns Hopkins School of Medicine; Baltimore

3. Laboratory of Bioorganic Chemistry of Enzymes; Institute of Chemical Biology and Fundamental Medicine; Novosibirsk Russia

4. Ambry Genetics; California

5. Molecular and Human Genetics, Baylor College of Medicine; Houston Texas

6. Wellcome Centre for Mitochondrial Research, Newcastle University; Newcastle NE2 4HH United Kingdom

Funder

The Wellcome Trust

Publisher

Wiley

Subject

Molecular Biology,Biochemistry

Reference32 articles.

1. The mitochondrial aminoacyl tRNA synthetases: genes and syndromes;Diodato;Int J Cell Biol,2014

2. Aminoacyl-tRNA synthetases in medicine and disease;Yao;EMBO Mol Med,2013

3. Novel pathogenic variants in the mitochondrial aminoacyl TRNA synthetases genes;Wang;Mol Genet Metab,2015

4. Mutations in FARS2 and non-fatal mitochondrial dysfunction in two siblings;Vernon;Am J Med Genet A,2015

5. Mitochondrial phenylalanyl-tRNA synthetase mutations underlie fatal infantile Alpers encephalopathy;Elo;Hum Mol Genet,2012

同舟云学术

1.学者识别学者识别

2.学术分析学术分析

3.人才评估人才评估

"同舟云学术"是以全球学者为主线,采集、加工和组织学术论文而形成的新型学术文献查询和分析系统,可以对全球学者进行文献检索和人才价值评估。用户可以通过关注某些学科领域的顶尖人物而持续追踪该领域的学科进展和研究前沿。经过近期的数据扩容,当前同舟云学术共收录了国内外主流学术期刊6万余种,收集的期刊论文及会议论文总量共计约1.5亿篇,并以每天添加12000余篇中外论文的速度递增。我们也可以为用户提供个性化、定制化的学者数据。欢迎来电咨询!咨询电话:010-8811{复制后删除}0370

www.globalauthorid.com

TOP

Copyright © 2019-2024 北京同舟云网络信息技术有限公司
京公网安备11010802033243号  京ICP备18003416号-3