The enigma of the E326K mutation in acid β-glucocerebrosidase

Mia Horowitz, Metsada Pasmanik-Chor, Idit Ron, Edwin H. Kolodny

Research output: Contribution to journalReview articlepeer-review

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 (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.

Original languageEnglish
Pages (from-to)35-38
Number of pages4
JournalMolecular Genetics and Metabolism
Volume104
Issue number1-2
DOIs
StatePublished - Sep 2011

Keywords

  • E326K mutation
  • Gaucher disease
  • Lysosomal beta glucocerebrosidase

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