The enigma of the E326K mutation in acid β-glucocerebrosidase
2011
Horowitz, Mia | Pasmanik-Chor, Metsada | Ron, Idit | Kolodny, Edwin H.
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 (1093G>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.
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书目信息
Molecular genetics and metabolism
卷
104
期
1
页码
35
- 38
ISSN
1096-7192
出版者
Elsevier Inc.
其它主题
Parkinson disease
语言
英语
类型
Journal Article; Text
2024-02-28
MODS