Functional analysis of 13GBAmutant alleles identified in Gaucher disease patients: Pathogenic changes and “modifier” polymorphisms
Author:
Funder
Genzyme
CICYT
Fundació Marató de TV3
FIS (Redes Temáticas)
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Reference30 articles.
1. Gaucher's disease variant characterised by progressive calcification of heart valves and unique genotype;Abrahamov;Lancet,1995
2. Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients;Amaral;Eur J Hum Genet,2000
3. Glucocerebrosidase mutations in Gaucher disease;Beutler;Mol Med,1994
4. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation;Chabás;J Med Genet,1995
Cited by 78 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. Increased glucosylsphingosine levels and Gaucher disease in GBA1-associated Parkinson's disease;Parkinsonism & Related Disorders;2024-07
2. The lysosomal β-glucocerebrosidase strikes mitochondria: implications for Parkinson’s therapeutics;Brain;2024-03-04
3. GBA1 variants in Brazilian Gaucher disease patients;Molecular Genetics and Metabolism Reports;2023-12
4. Axonal Transport of Lysosomes Is Unaffected in Glucocerebrosidase-Inhibited iPSC-Derived Forebrain Neurons;eneuro;2023-10
5. Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism;Nature Communications;2023-04-06
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