Article
Loss of glucocerebrosidase 1 activity causes lysosomal dysfunction and α-synuclein aggregation.
Experimental & molecular medicine - 27 Mar 2015
Bae Eun-Jin, Yang Na Young, Lee Cheolsoon, Lee He-Jin, Kim Seokjoong, Sardi Sergio Pablo, Lee Seung-Jae
Abstract excerpt
Lysosomal dysfunction is a common pathological feature of neurodegenerative diseases. GTP-binding protein type A1 (GBA1) encodes β-glucocerebrosidase 1 (GCase 1), a lysosomal hydrolase. Homozygous mutations in GBA1 cause Gaucher disease, the most common lysosomal storage disease, while heterozygous mutations are strong risk factors for Parkinson's disease. However, whether loss of GCase 1 activity is sufficient...
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