Article
Gain-of-function variant in GLUD2 glutamate dehydrogenase modifies Parkinson's disease onset.
European journal of human genetics : EJHG - 1 Mar 2010
Plaitakis Andreas, Latsoudis Helen, Kanavouras Konstantinos, Ritz Beate, Bronstein Jeff M, Skoula Irene, Mastorodemos Vasileios, Papapetropoulos Spyridon, Borompokas Nikolas, Zaganas Ioannis, Xiromerisiou Georgia, Hadjigeorgiou George M, Spanaki Cleanthe
Abstract excerpt
Parkinson's disease (PD), a common neurodegenerative disorder characterized by progressive loss of dopaminergic neurons and their terminations in the basal ganglia, is thought to be related to genetic and environmental factors. Although the pathophysiology of PD neurodegeneration remains unclear, protein misfolding, mitochondrial abnormalities, glutamate dysfunction and/or oxidative stress have been implicated....
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