Correlation between enzyme activity and substrate storage in a cell culture model system for Gaucher disease
Author:
Affiliation:
1. ; Developmental and Metabolic Neurology Branch, NINDS, NIH; Bethesda Maryland USA
2. ; Kekulé-Institut für Organische Chemie und Biochemie der Universität Bonn; Bonn Germany
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1023/B:BOLI.0000042959.44318.7c/fullpdf
Reference35 articles.
1. Metabolism of glucocerebrosides. II. Evidence of an enzymatic deficiency in Gaucher's disease;Brady;Biochem Biophys Res Commun,1965
2. Replacement therapy for inherited enzyme deficiency. Use of purified glucocerebrosidase in Gaucher's disease;Brady;N Engl J Med,1974
3. Altered ganglioside biosynthesis in mouse cell cultures following transformation with chemical carcinogens and x-irradiation;Coleman;J Biol Chem,1975
4. Partial enzyme deficiencies: residual activities and the development of neurological disorders;Conzelmann;Dev Neurosci,1983
5. Novel oral treatment of Gaucher's disease with N-butyldeoxynojirimycin (OGT 918) to decrease substrate biosynthesis;Cox;Lancet,2000
Cited by 99 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. Clinical and preclinical insights into high-dose ambroxol therapy for Gaucher disease type 2 and 3: A comprehensive systematic review;Molecular Genetics and Metabolism;2024-09
2. Intrinsic link between PGRN and Gba1 D409V mutation dosage in potentiating Gaucher disease;Human Molecular Genetics;2024-08-05
3. Clinical and Preclinical Insights into High-Dose Ambroxol Therapy for Gaucher Disease Type 2 and 3: A Comprehensive Systematic Review;2024
4. Potential Binding Sites of Pharmacological Chaperone NCGC00241607 on Mutant β-Glucocerebrosidase and Its Efficacy on Patient-Derived Cell Cultures in Gaucher and Parkinson’s Disease;International Journal of Molecular Sciences;2023-05-22
5. Advances in therapies for neurological lysosomal storage disorders;Journal of Inherited Metabolic Disease;2023-05-02
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