CORDIS Project
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This project investigates the links between Gaucher's disease and Parkinson's disease by studying cellular mechanisms affected by glucocerebrosidase mutations. It aims to uncover how these conditions interact at the molecular level to identify potential therapeutic targets.
Recent studies have highlighted a strong genetic association between Parkinson’s disease (PD) and Gaucher’s disease (GD), a lysosomal storage disorder that causes severe neurodegeneration in children and shares some pathophysiological features of PD. GD results from mutations that reduce activity of the enzyme glucocerebrosidase (GCase), causing impaired lysosomal function.
It was recently shown that GCase mutations cause several defects associated with impaired cellular quality control - impair…
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