Authors
Konstantin Senkevich, Cornelia E Zorca, Aliza Dworkind, Uladzislau Rudakou, Emma Somerville, Eric Yu, Alexey Ermolaev, Daria Nikanorova, Jamil Ahmad, Jennifer A Ruskey, Farnaz Asayesh, Dan Spiegelman, Stanley Fahn, Cheryl Waters, Oury Monchi, Yves Dauvilliers, Nicolas Dupré, Lior Greenbaum, Sharon Hassin-Baer, Francis P Grenn, Ming Sum Ruby Chiang, S Pablo Sardi, Benoît Vanderperre, Cornelis Blauwendraat, Jean-François Trempe, Edward A Fon, Thomas M Durcan, Roy N Alcalay, Ziv Gan-Or
Publication date
2023/5/2
Journal
Brain
Volume
146
Issue
5
Pages
1859-1872
Publisher
Oxford University Press
Description
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 whether GALC is the gene driving the association in the chromosome 14 locus and, if so, by which mechanism.
We first aimed to examine whether variants in the GALC locus and across the genome are associated with galactosylceramidase activity. We performed a genome-wide association study in two independent cohorts from (i) Columbia University; and (ii) the Parkinson’s Progression Markers Initiative study, followed by a meta-analysis with a total of 976 PD patients and 478 …
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Scholar articles
K Senkevich, CE Zorca, A Dworkind, U Rudakou… - Brain, 2023