Chaperoning glucocerebrosidase:a therapeutic strategy for both Gaucher disease and Parkinsonism

作     者：Benjamin McMahon Elma Aflaki Ellen Sidransky 

作者机构：Medical Genetics BranchNational Human Genome Research InstituteNational Institutes of Health 

出 版 物：《Neural Regeneration Research》 (中国神经再生研究（英文版）)

年 卷 期：2016年第11卷第11期

页      面：1760-1761页

核心收录：

学科分类：1002[医学-临床医学] 100204[医学-神经病学] 10[医学] 

基　　金：supported by the Intramural Research Programs of the National Human Genome Research Institute and the National Institutes of Health 

主　　题：GBA Chaperoning glucocerebrosidase GD 

摘      要：Gaucher disease （GD） is a lysosomal storage disorder （LSD） affecting approximately 1 in 50,000 individuals in the general population. Mutations in both alleles of the GBA1 gene result in deficient glucocerebrosidase （GCase） activity, which in turn leads to the accumulation of glycolipid substrates and impaired lysosomal function. GD is a multisystern disorder with a vast spectrum of clinical phenotvpes,