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Article

The enigma of the E326K mutation in acid β-glucocerebrosidase.

Molecular genetics and metabolism - 1 Jan 2000

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

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 21831682
DOI: 10.1016/j.ymgme.2011.07.002

Genes

GBA1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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