The enigma of the E326K mutation in acid β-glucocerebrosidase
作者： Mia Horowitz , Metsada Pasmanik-Chor , Idit Ron , Edwin H. Kolodny
DOI: 10.1016/J.YMGME.2011.07.002
关键词:
摘要: Abstract A large number of mutations, and several polymorphisms, have been characterized in the GBA gene, encoding lysosomal enzyme glucocerebrosidase, activity which is impaired Gaucher disease. In this communication we summarize published new data concerning biochemical characterization E326K amino acid change (1093 G > A GBA1 cDNA) tissue culture its association with Parkinson disease, suggesting it a disease causing mutation not merely polymorphism gene.
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