The genetics and pathology of oxidative phosphorylation
Author:
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics,Molecular Biology
Link
http://www.nature.com/articles/35072063.pdf
Reference127 articles.
1. Bourgeron, T. et al. Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency. Nature Genet. 11, 144–149 (1995). The first report of a nuclear OXPHOS gene mutation in complex-II-deficient Leigh syndrome.
2. Luft, R., Ikkos, D., Palmieri, G., Ernster, L. & Afzelius, B. A. A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control: a correlated clinical, biochemical and morphological study. J. Clin. Invest. 41, 1776–1804 ( 1962).The first report of a patient with a mitochondrial disorder. After this classic paper, a whole new field in human pathology was initiated.
3. Sengers, R. C., Stadhouders, A. M. & Trijbels, J. M. Mitochondrial myopathies. Clinical, morphological and biochemical aspects. Eur. J. Pediatr. 141, 192–207 (1984).
4. DiMauro, S., Bonilla, E., Davidson, M., Hirano, M. & Schon, E. A. Mitochondria in neuromuscular disorders . Biochim. Biophys. Acta 1366, 199– 210 (1998).
5. Wallace, D. C. Mitochondrial diseases in man and mouse. Science 283 , 1482–1488 (1999).
Cited by 609 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. Micro-interfacial behavior of antibiotic-resistant bacteria and antibiotic resistance genes in the soil environment: A review;Environment International;2024-09
2. SLC7A11-mediated cystine import protects against NDUFS7 deficiency-induced cell death in HEK293T cells;Biochemical and Biophysical Research Communications;2024-09
3. Replication and Transcription of Human Mitochondrial DNA;Annual Review of Biochemistry;2024-08-02
4. Chronic exposure to environmental concentrations of benzo[a]pyrene causes multifaceted toxic effects of developmental compromise, redox imbalance, and modulated transcriptional profiles in the early life stages of marine medaka (Oryzias melastigma);Aquatic Toxicology;2024-08
5. Biosynthetic deficiency of docosahexaenoic acid causes nonalcoholic fatty liver disease and ferroptosis-mediated hepatocyte injury;Journal of Biological Chemistry;2024-07
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