Metabolic epilepsy in hyperprolinemia type II due to a novel nonsense ALDH4A1 gene variant
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical),Biochemistry
Link
https://link.springer.com/content/pdf/10.1007/s11011-021-00757-w.pdf
Reference15 articles.
1. Farrant RD, Walker V, Mills GA, Mellor JM, Langley GJ (2001) Pyridoxal phosphate de-activation by pyrroline-5-carboxylic acid. Increased risk of vitamin B6 deficiency and seizures in hyperprolinemia type II. J Biol Chem 276(18):15107–15116. https://doi.org/10.1074/jbc.M010860200
2. Ferreira AGK, Stefanello FM, Cunha AA, Cunha MJ, Pereira TCB, Bonan CD, Bogo MR, Netto CA, Wyse ATS (2011) Role of antioxidants on Na(+), K (+)-ATPase activity and gene expression in cerebral cortex of hyperprolinemic rats. Metab Brain Dis 26(2):141–147. https://doi.org/10.1007/s11011-011-9243-0
3. Finkel RS (2010) Read-through strategies for suppression of nonsense mutations in Duchenne/ Becker muscular dystrophy: Aminoglycosides and ataluren (PTC124). J Child Neurol 25(9):1158–1164. https://doi.org/10.1177/0883073810371129
4. Flynn MP, Martin MC, Moore PT, Stafford JA, Fleming GA, Phang JM (1989) Type II hyperprolinaemia in a pedigree of Irish travellers (nomads). Arch Dis Childh 64(12):1699–1707. https://doi.org/10.1136/adc.64.12.1699
5. Geraghty MT, Vaughn D, Nicholson AJ, Lin WW, Jimenez-Sanchez G, Obie C, Flynn MP, Valle D, Hu CA (1998) Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia. Hum Mol Genet 7(9):1411–1415. https://doi.org/10.1093/hmg/7.9.1411
Cited by 6 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. Respiratory Complications in the Inborn Errors of Metabolism;Current Respiratory Medicine Reviews;2025-02
2. Severe hypoglycemia with Hyperprolinemia and Pituitary Stalk Interruption Syndrome in a 5-year-old boy: A Case Report and Literature Review;2024-08-11
3. Epilepsy Phenotypes of Vitamin B6-Dependent Diseases: An Updated Systematic Review;Children;2023-03-15
4. Annotation of 1350 Common Genetic Variants of the 19 ALDH Multigene Family from Global Human Genome Aggregation Database (gnomAD);Biomolecules;2021-09-29
5. Vitamin B6 and Related Inborn Errors of Metabolism;B-Complex Vitamins - Sources, Intakes and Novel Applications [Working Title];2021-09-03
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