A novel mutation in YARS2 causes myopathy with lactic acidosis and sideroblastic anemia
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference36 articles.
1. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V;Antonellis;Am J Hum Genet,2003
2. Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect;Antonicka;Am J Hum Genet,2010
3. Mutations in the mitochondrial seryl-tRNA synthetase cause hyperuricemia, pulmonary hypertension, renal failure in infancy and alkalosis, HUPRA syndrome;Belostotsky;Am J Hum Genet,2011
4. Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features;Bonnefond;Structure,2007
5. Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA);Bykhovskaya;Am J Hum Genet,2004
Cited by 47 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献
1. A rare homozygous mutation in the YARS2 gene presents with hypertrophic cardiomyopathy, lactic acidosis and anemia in a Chinese infant;Gene;2024-07
2. Potential prognostic biomarkers of hepatocellular carcinoma based on 4D label-free quantitative proteomics analysis pilot investigation;The International Journal of Biological Markers;2023-11-13
3. tRNA Dysregulation in Neurodevelopmental and Neurodegenerative Diseases;Annual Review of Cell and Developmental Biology;2023-10-16
4. RNA granule-clustered mitochondrial aminoacyl-tRNA synthetases form multiple complexes with the potential to fine-tune tRNA aminoacylation;Nucleic Acids Research;2022-12-09
5. Two Novel Variants in YARS2 Gene Are Responsible for an Extended MLASA Phenotype with Pancreatic Insufficiency;Journal of Clinical Medicine;2021-08-05
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