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The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines
Sequence variants or mutations in the GBA gene are numerically the most important risk factor for Parkinson disease (PD). The GBA gene encodes for the lysosomal hydrolase enzyme, glucocerebrosidase (GCase). GBA mutations often reduce GCase activity and lead to the impairment of the autophagy-lysosom...
| Autores principales: | , , , , |
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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/PMC9941838/ https://www.ncbi.nlm.nih.gov/pubmed/36130205 http://dx.doi.org/10.1093/hmg/ddac233 |