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

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...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151180/
https://www.ncbi.nlm.nih.gov/pubmed/36370000
http://dx.doi.org/10.1093/brain/awac413

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10151180/
https://www.ncbi.nlm.nih.gov/pubmed/36370000
http://dx.doi.org/10.1093/brain/awac413

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