Characterization of the mutations in three patients with pyruvate dehydrogenase E1α deficiency
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/BF01800586
Reference32 articles.
1. Barrera, C. R., Namihira, G., Hamilton, L., Munk, P., Eley, M. H., Linn, T. C. and Reed, L. J.α-Keto acid dehydrogenase complex. XVI. Studies on the subunit structure of the pyruvate dehydrogenase complexes from bovine kidney and heart.Arch. Biochem. Biophys. 148 (1972) 343–358
2. Brown, G. K., Scholem, R. D., Hunt, S. M., Harrison, J. R. and Pollard, A. C. Hyperammonaemia and lactic acidosis in a patient with pyruvate dehydrogenase deficiency.J. Inher. Metab. Dis. 10 (1987) 359–366
3. Brown, G. K., Haan, E. A., Kirby, D. M., Scholem, R. D., Wraith, J. E., Rogers, J. G. and Danks, D. M. ‘Cerebral’ lactic acidosis: defects in pyruvate metabolism with profound brain damage and minimal systemic acidosis.Eur. J. Pediatr. 147 (1988) 10–14
4. Brown, G. K., Brown, R. M., Scholem, R. D., Kirby, D. M. and Dahl, H.-H. M. The clinical and biochemical spectrum of human pyruvate dehydrogenase deficiency.Ann. NY Acad. Sci. 573 (1989a) 360–368
5. Brown, R. M., Dahl, H.-H. M. and Brown, G. K. X-Chromosome location of the functional gene for the E1α subunit of the human pyruvate dehydrogenase complex.Genomics 4 (1989b) 174–181
Cited by 52 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. PARylated PDHE1α generates acetyl-CoA for local chromatin acetylation and DNA damage repair;Nature Structural & Molecular Biology;2023-09-21
2. Emerging regulatory roles of mitochondrial sirtuins on pyruvate dehydrogenase complex and the related metabolic diseases: Review;Biomedical Research and Therapy;2020-02-29
3. Differential phenotypic expression of a novel PDHA1 mutation in a female monozygotic twin pair;Human Genetics;2019-10-31
4. Pyruvate dehydrogenase complex deficiency and its relationship with epilepsy frequency – An overview;Epilepsy Research;2015-10
5. Erratum to “The spectrum of pyruvate dehydrogenase complex deficiency: Clinical, biochemical and genetic features in 371 patients” Molecular Genetics and Metabolism (2012) [34–43];Molecular Genetics and Metabolism;2012-07
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