Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference33 articles.
1. Cloning, sequencing and expression of rat liver 3-phosphoglycerate dehydrogenase;Achouri;Biochem J,1997
2. Beneficial effects of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficiency;de Koning;Ann Neurol,1998
3. Hypomyelination and reversible white matter attenuation in 3-phosphoglycerate dehydrogenase deficiency;de Koning;Neuropediatrics,2000
4. Congenital microcephaly and seizures due to 3-phosphoglycerate dehydrogenase deficiency: outcome of treatment with amino acids;de Koning;J Inherit Metab Dis,2002
5. Serine-deficiency syndromes;de Koning;Curr Opin Neurol,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. Low glucose metabolite 3-phosphoglycerate switches PHGDH from serine synthesis to p53 activation to control cell fate;Cell Research;2023-09-19
2. Biochemical and cellular studies of three human 3‐phosphoglycerate dehydrogenase variants responsible for pathological reduced L‐serine levels;BioFactors;2023-08-31
3. Sources and Sinks of Serine in Nutrition, Health, and Disease;Annual Review of Nutrition;2023-08-21
4. Putting It All Together: Postmortem Diagnosis of a Rare Ichthyosis Syndrome;Cureus;2023-05-09
5. Mild phenotypes of phosphoglycerate dehydrogenase deficiency by a novel mutation of PHGDH gene: Case report and literature review;International Journal of Developmental Neuroscience;2022-11-09
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