title: The enigma of the E326K mutation in acid β-glucocerebrosidase.
abstract: 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.
authors.affiliation: Department of Cell Research and Immunology, Tel Aviv University, Ramat Aviv, 69978, Israel. horwitzm@post.tau.ac.il
authors.forename: Mia
authors.initials: M
authors.lastname: Horowitz
authors.forename: Metsada
authors.initials: M
authors.lastname: Pasmanik-Chor
authors.forename: Idit
authors.initials: I
authors.lastname: Ron
authors.forename: Edwin H
authors.initials: EH
authors.lastname: Kolodny
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D005962:Glucosylceramidase / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000235:genetics; D046509:Tissue Culture Techniques
chemical_list: D005962:Glucosylceramidase