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The <i>GBA</i> variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines

2022-06-01

Abstract excerpt

Sequence variants or mutations in the GBA gene are numerically the most important risk factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase enzyme, glucocerebrosidase (GCase). GBA mutations often reduce GCase activity and lead to impairment of the autophagy-lysosomal pathway, which is important in the turnover of alpha-synuclein, accumulation of which is a key pathological hallmar...

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Literature Corpus work
ae0bd5af-7937-5e17-9ebc-384f312dfd23
DOI
10.1101/2022.06.01.494130
Open publication

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The <i>GBA</i> variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell linesDOI 10.1101/2022.06.01.494130
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