How to fix a broken protein: restoring function to mutant human cystathionine β-synthase
Author:
Funder
Foundation for the National Institutes of Health
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Link
https://link.springer.com/content/pdf/10.1007/s00439-021-02386-w.pdf
Reference67 articles.
1. Applegarth DA, Toone JR, Lowry RB (2000) Incidence of inborn errors of metabolism in British Columbia, 1969–1996. Pediatrics 105:e10. https://doi.org/10.1542/peds.105.1.e10
2. Aral B, Coude M, London J, Aupetit J, Chasse JF, Zabot MT, Chadefaux-Vekemans B, Kamoun P (1997) Two novel mutations (K384E and L539S) in the C-terminal moiety of the cystathionine beta-synthase protein in two French pyridoxine-responsive homocystinuria patients. Hum Mutat 9:81–82. https://doi.org/10.1002/(SICI)1098-1004(1997)9:1%3c81::AID-HUMU18%3e3.0.CO;2-L
3. Balch WE, Morimoto RI, Dillin A, Kelly JW (2008) Adapting proteostasis for disease intervention. Science 319:916–919. https://doi.org/10.1126/science.1141448
4. Banerjee R, Zou CG (2005) Redox regulation and reaction mechanism of human cystathionine-beta-synthase: a PLP-dependent hemesensor protein. Arch Biochem Biophys 433:144–156. https://doi.org/10.1016/j.abb.2004.08.037
5. Barber GW, Spaeth GL (1969) The successful treatment of homocystinuria with pyridoxine. J Pediatr 75:463–478. https://doi.org/10.1016/s0022-3476(69)80274-x
Cited by 9 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. Real-time detection of enzymatically formed hydrogen sulfide by pathogenic variants of cystathionine beta-synthase using hemoglobin I of Lucina pectinata as a biosensor;Free Radical Biology and Medicine;2024-10
2. Deciphering pathophysiological mechanisms underlying cystathionine beta-synthase-deficient homocystinuria using targeted metabolomics, liver proteomics, sphingolipidomics and analysis of mitochondrial function;Redox Biology;2024-07
3. Architecture and regulation of filamentous human cystathionine beta-synthase;Nature Communications;2024-04-04
4. Genetic and Pharmacological Modulation of Cellular Proteostasis Leads to Partial Functional Rescue of Homocystinuria-Causing Cystathionine-Beta Synthase Variants;Molecular and Cellular Biology;2023-12-02
5. Examination of two different proteasome inhibitors in reactivating mutant human cystathionine β-synthase in mice;PLOS ONE;2023-06-15
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