TY - JOUR
T1 - The enigma of the E326K mutation in acid β-glucocerebrosidase
AU - Horowitz, Mia
AU - Pasmanik-Chor, Metsada
AU - Ron, Idit
AU - Kolodny, Edwin H.
PY - 2011/9
Y1 - 2011/9
N2 - 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.
AB - 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.
KW - E326K mutation
KW - Gaucher disease
KW - Lysosomal beta glucocerebrosidase
UR - http://www.scopus.com/inward/record.url?scp=80052531666&partnerID=8YFLogxK
U2 - 10.1016/j.ymgme.2011.07.002
DO - 10.1016/j.ymgme.2011.07.002
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AN - SCOPUS:80052531666
SN - 1096-7192
VL - 104
SP - 35
EP - 38
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 1-2
ER -
