The enigma of the E326K mutation in acid β-glucocerebrosidase

被引：47

作者：

Horowitz, Mia ^{[1
]}

Pasmanik-Chor, Metsada ^{[1
]}

Ron, Idit ^{[1
]}

Kolodny, Edwin H. ^{[2
]}

机构：

[1] Tel Aviv Univ, Dept Cell Res & Immunol, IL-69978 Ramat Aviv, Israel

[2] NYU Med Ctr, Dept Neurol, New York, NY 10016 USA

来源：

MOLECULAR GENETICS AND METABOLISM | 2011年 / 104卷 / 1-2期

关键词：

Gaucher disease; Lysosomal beta glucocerebrosidase; E326K mutation; GAUCHER-DISEASE PATIENTS; PARKINSONS-DISEASE; MUTANT ALLELES; GENE; GBA; IDENTIFICATION; GLUCOSIDASE; TYPE-1; POLYMORPHISM; PSEUDOGENE;

D O I：

10.1016/j.ymgme.2011.07.002

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

A large number of mutations, and several polymorphisms, have been characterized in the GBA gene, encoding the lysosomal enzyme glucocerebrosidase, the activity of which is impaired in Gaucher disease. In this communication we summarize published and new data concerning biochemical characterization of the E326K amino acid change (1093 G > A in the GBA1 cDNA) in tissue culture and its association with Parkinson disease, suggesting it is a disease causing mutation and not merely a polymorphism in the GBA gene. (C) 2011 Elsevier Inc. All rights reserved.

引用

页码：35 / 38

页数：4

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