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Plasma glucosylceramide levels are regulated by ATP10D and are not involved in Parkinson's disease pathogenesis.

2024-09-14 genetic and genomic medicine Title + abstract only
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GBA1 variants and decreased glucocerebrosidase (GCase) activity are implicated in Parkinsons disease (PD). We investigated the hypothesis that increased levels of glucosylceramide (GlcCer), one of GCase main substrates, are involved in PD pathogenesis. Using multiple genetic methods, we show that ATP10D, not GBA1, is the main regulator of plasma GlcCer levels, yet it is not involved in PD pathogenesis. Plasma GlcCer levels were associated with PD, but not in a causative manner, and are not predi...

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