Vulnerability to Oxidative Stress In Vitro in Pathophysiology of Mitochondrial Short-Chain Acyl-CoA Dehydrogenase Deficiency: Response to Antioxidants
Author:
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference42 articles.
1. The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level.;CB Pedersen;Hum Genet,2008
2. Short-chain acyl-CoA dehydrogenase gene mutation (c.319C>T) presents with clinical heterogeneity and is candidate founder mutation in individuals of Ashkenazi Jewish origin.;I Tein;Mol Genet Metab,2008
3. Short-chain acyl-CoA dehydrogenase deficiency (SCADD): relatively high prevalence in the Netherlands and strongly variable phenotype; neonatal screening not indicated.;BT van Maldegem;Ned Tijdschr Geneeskd,2008
4. Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase.;MJ Corydon;Pediatr Res,1996
5. Identification of four new mutations in the short-chain acyl-CoA dehydrogenase (SCAD) gene in two patients: one of the variant alleles, 511C→T, is present at an unexpectedly high frequency in the general population, as was the case for 625G→A, together conferring susceptibility to ethylmalonic aciduria.;N Gregersen;Hum Mol Genet,1998
Cited by 32 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. Circadian clock disruption engages the DREAM complex in suppressing cellular health;2024-06-30
2. Oxidized LDL‐dependent pathway as new pathogenic trigger in arrhythmogenic cardiomyopathy;EMBO Molecular Medicine;2021-08-02
3. Variants in the ethylmalonyl‐CoA decarboxylase ( ECHDC1 ) gene: a novel player in ethylmalonic aciduria?;Journal of Inherited Metabolic Disease;2021-06-08
4. Ingrid Tein;Child Neurology;2021
5. Effects of prolonged subchronic benzo(α)pyrene exposure on rat liver morphology and CYP1A expression during treatment with menadione, quercetin, or tocopherol;Drug and Chemical Toxicology;2020-11-19
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