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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...
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 |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Oxford University Press
2022
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Materias: | |
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 |
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