Article
Validation and assessment of preanalytical factors of a fluorometric in vitro assay for glucocerebrosidase activity in human cerebrospinal fluid.
Scientific reports - 16 Dec 2020
Oftedal Linn, Maple-Grødem Jodi, Førland Marthe Gurine Gunnarsdatter, Alves Guido, Lange Johannes
Abstract excerpt
Lysosomal dysfunction is an emerging feature in the pathology of Parkinson's disease and Dementia with Lewy bodies. Mutations in the GBA gene, encoding the enzyme Glucocerebrosidase (GCase), have been identified as a genetic risk factor for these synucleinopathies. As a result, there has been a growing interest in the involvement of GCase in these diseases. This GCase activity assay is based on the catalytic...
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