Article
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Brain : a journal of neurology - 1 Mar 2014
Murphy Karen E, Gysbers Amanda M, Abbott Sarah K, Tayebi Nahid, Kim Woojin S, Sidransky Ellen, Cooper Antony, Garner Brett, Halliday Glenda M
Abstract excerpt
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor for Parkinson's disease. Reduced glucocerebrosidase and α-synuclein accumulation are directly related in cell models of Parkinson's disease. We investigated relationships between Parkinson's disease-specific glucocerebrosidase deficits, glucocerebrosidase-related pathways, and...
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