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Article

Mutant GBA1 expression and synucleinopathy risk: first insights from cellular and mouse models.

Neuro-degenerative diseases - 1 Jan 2012

Sardi S Pablo, Singh Priyanka, Cheng Seng H, Shihabuddin Lamya S, Schlossmacher Michael G

Abstract excerpt

Heterozygous mutations in the glucocerebrosidase gene (GBA1) are associated with increased risk for α-synuclein aggregation disorders ('synucleinopathies'), which include Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Homozygous GBA1 mutations lead to reduced GBA1 lysosomal activity underlying three variants of Gaucher disease (GD). Despite the wealth of clinical and genetic evidence supporting the...

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Identifiers

PMID: 22327140
DOI: 10.1159/000335038

Genes

GBA1

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