ArticleMovement disorders : official journal of the Movement Disorder Society2026
Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.
Article in Movement disorders : official journal of the Movement Disorder Society, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Glucocerebrosidase dysfunction in GBA1 carriers: insights from blood and macrophage analyses.Molecular biology reports · 2026Article
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Abstract
backgroundGBA1 encodes the lysosomal enzyme glucocerebrosidase, with key substrates that include glucosylceramide and glucosylsphingosine. The E365K variant is the most common variant in GBA1 that is associated with Parkinson's disease (PD) but is not associated with Gaucher disease. Plasma glucosylsphingosine levels have previously been shown to be higher in GBA1 N409S heterozygous carriers, but its levels in E365K carriers are unknown.
objectiveThe aim was to measure plasma glucosylsphingosine levels in GBA1 N409S, E365K, and L483P heterozygous mutation carriers with and without PD.
methodsGlucosylsphingosine was quantified in plasma from 112 participants using liquid chromatography-tandem mass spectrometry targeted quantification.
resultsPlasma glucosylsphingosine concentration was significantly higher in N409S (0.59 ng/mL, p = 0.004), E365K (0.59 ng/mL, p = 0.01), and L483P (0.63 ng/mL, p = 0.003) heterozygotes compared to noncarriers (0.45 ng/mL), independent of disease status.
conclusionsElevated plasma glucosylsphingosine confirms reduced glucocerebrosidase function in E365K carriers. © 2026 Merck &Co. Inc. and The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
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