Hypervalinemia and hyperleucine-isoleucinemia caused by mutations in the branched-chain-amino-acid aminotransferase gene
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-015-9814-z
Reference20 articles.
1. Barschak AG, Sitta A, Deon M et al (2009) Amino acids levels and lipid peroxidation in maple syrup urine disease patients. Clin Biochem 42:462–466
2. Brosnan JT, Brosnan ME (2006) Branched-chain amino acids: enzyme and substrate regulation. J Nutr 136:207S–211S
3. Chace DH, Hillman SL, Millington DS, Kahler SG, Roe CR, Naylor EW (1995) Rapid diagnosis of maple syrup urine disease in blood spots from newborns by tandem mass spectrometry. Clin Chem 41:62–68
4. Conway ME, Yennawar N, Wallin R, Poole LB, Hutson SM (2002) Identification of a peroxide-sensitive redox switch at the CXXC motif in the human mitochondrial branched chain aminotransferase. Biochemistry 41:9070–9078
5. Conway ME, Yennawar N, Wallin R, Poole LB, Hutson SM (2003) Human mitochondrial branched chain aminotransferase: structural basis for substrate specificity and role of redox active cysteines. Biochim Biophys Acta 1647:61–65
Cited by 39 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. Transcriptomic and histologic analyses preliminarily reveal the immune-metabolic response mechanism to saline-alkaline in large yellow croaker (Larimichthys crocea);Comparative Biochemistry and Physiology Part D: Genomics and Proteomics;2024-12
2. Transcriptomic and Histologic Analyses Preliminarily Reveal the Immune-Metabolic Response Mechanism to Saline-Alkaline in Large Yellow Croaker (Larimichthys Crocea);2024
3. Transcriptomic and Histologic Analyses Preliminarily Reveal the Immune-Metabolic Response Mechanism to Saline-Alkaline in Large Yellow Croaker (Larimichthys Crocea);2024
4. Research progress on branched-chain amino acid aminotransferases;Frontiers in Genetics;2023-11-06
5. Metabolomics of head and neck cancer in biofluids: an integrative systematic review;Metabolomics;2023-08-29
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