Heterogeneity of Mutations in the Acid β-Glucosidase Gene of Gaucher Disease Patients
Author:
Publisher
Mary Ann Liebert Inc
Subject
Cell Biology,Genetics,Molecular Biology,General Medicine
Link
http://www.liebertpub.com/doi/pdf/10.1089/dna.1991.10.15
Reference23 articles.
1. Gene conversion: Some implications for immunoglobulin genes
2. A rapid alkaline extraction procedure for screening recombinant plasmid DNA
3. Supercoil Sequencing: A Fast and Simple Method for Sequencing Plasmid DNA
4. Genetic heterogeneity in Gaucher disease: Physicokinetic and immunologic studies of the residual enzyme in cultured fibroblasts from non-neuronopathic and neuronopathic patients
5. Analyses of catalytic activity and inhibitor binding of human acid beta-glucosidase by site-directed mutagenesis. Identification of residues critical to catalysis and evidence for causality of two Ashkenazi Jewish Gaucher disease type 1 mutations.
Cited by 85 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. Mutations in Glycosyltransferases and Glycosidases: Implications for Associated Diseases;Biomolecules;2024-04-19
2. Mechanisms of Glucocerebrosidase Dysfunction in Parkinson’s Disease;Journal of Molecular Biology;2023-06
3. Patient centered guidelines for the laboratory diagnosis of Gaucher disease type 1;Orphanet Journal of Rare Diseases;2022-12-21
4. Lysosomal Pathogenesis of Parkinson’s Disease: Insights From LRRK2 and GBA1 Rodent Models;Neurotherapeutics;2022-09-09
5. Decreased glucocerebrosidase activity and substrate accumulation of glycosphingolipids in a novel GBA1 D409V knock-in mouse model;PLOS ONE;2021-06-09
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