Article
Glucocerebrosidase deficiency promotes release of α-synuclein fibrils from cultured neurons.
Human molecular genetics - 27 Jun 2020
Gegg Matthew E, Verona Guglielmo, Schapira Anthony H V
Abstract excerpt
Mutations in the GBA gene, which encodes the lysosomal enzyme glucocerebrosidase (GCase), are the most important genetic risk factor for Parkinson disease (PD). GCase activity is also decreased in sporadic PD brains and with normal ageing. Loss of GCase activity impairs the autophagy lysosomal pathway resulting in increased α-synuclein (α-syn) levels. Furthermore, elevated α-syn results in decreased GCase...
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