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...

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Detalles Bibliográficos
Autores principales: Smith, Laura J, Bolsinger, Magdalena M, Chau, Kai-Yin, Gegg, Matthew E, Schapira, Anthony H V
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/PMC9941838/
https://www.ncbi.nlm.nih.gov/pubmed/36130205
http://dx.doi.org/10.1093/hmg/ddac233

Internet

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

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