Article
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.
Molecular genetics and metabolism - 1 Jan 2000
Choi Jae Hyuk, Stubblefield Barbara, Cookson Mark R, Goldin Ehud, Velayati Arash, Tayebi Nahid, Sidransky Ellen
Abstract excerpt
Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with α-synucleinopathies including Parkinson disease. Some patients with Gaucher disease (GD) develop parkinsonism with α-synuclein-positive inclusions post mortem. Proteins were extracted from the cerebral cortex of subjects with synucleinopathies with and without GBA1 mutations, controls and patients with...
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