GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

doi:10.1093/brain/awac413

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Article

GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease.

Brain : a journal of neurology - 2 May 2023

Senkevich Konstantin, Zorca Cornelia E, Dworkind Aliza, Rudakou Uladzislau, Somerville Emma, Yu Eric, Ermolaev Alexey, Nikanorova Daria, Ahmad Jamil, Ruskey Jennifer A, Asayesh Farnaz, Spiegelman Dan, Fahn Stanley, Waters Cheryl, Monchi Oury, Dauvilliers Yves, Dupré Nicolas, Greenbaum Lior, Hassin-Baer Sharon, Grenn Francis P, Chiang Ming Sum Ruby, Sardi S Pablo, Vanderperre Benoît, Blauwendraat Cornelis, Trempe Jean-François, Fon Edward A, Durcan Thomas M, Alcalay Roy N, Gan-Or Ziv

Abstract excerpt

The association between glucocerebrosidase, encoded by GBA, and Parkinson's disease (PD) highlights the role of the lysosome in PD pathogenesis. Genome-wide association studies in PD have revealed multiple associated loci, including the GALC locus on chromosome 14. GALC encodes the lysosomal enzyme galactosylceramidase, which plays a pivotal role in the glycosphingolipid metabolism pathway. It is still unclear...

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PMID: 36370000
DOI: 10.1093/brain/awac413
PMCID: PMC10151180

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