Article
GBA1 mutations: Prospects for exosomal biomarkers in α-synuclein pathologies.
Molecular genetics and metabolism - 1 Feb 2020
Johnson Parker H, Weinreb Neal J, Cloyd James C, Tuite Paul J, Kartha Reena V
Abstract excerpt
The discovery that patients with Gaucher Disease (GD), a rare lysosomal storage disorder, were developing symptoms similar to Parkinson's disease (PD) led to investigation of the relationship between the two seemingly unrelated pathologies. GD, an autosomal recessive disorder, is the result of a biallelic mutation in the gene GBA1, which encodes for the enzyme glucocerebrosidase (GCase). Since the observation of...
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