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Plasma Glucosylsphingosine in GBA1 E365K, N409S, and L483P Heterozygous Mutation Carriers.

Movement disorders : official journal of the Movement Disorder Society - 1 May 2026

Agin-Liebes Julian, Haimovich Alexander, Griep Rachel, Hatcher Nathan Galen, Yao Lihang, Waters Cheryl, Padmanabhan Shalini, Alcalay Roy N

Abstract excerpt

BACKGROUND: GBA1 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...

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Identifiers

PMID: 41552855
DOI: 10.1002/mds.70205
PMCID: PMC13206162

Genes

GBA1

Variants

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