The GBA variant E326K is associated with alpha-synuclein aggregation and lipid droplet accumulation in human cell lines.
Laura J Smith, Magdalena M. Bolsinger, Kai‐Yin Chau, Matthew E. Gegg, Anthony H.V. Schapira
This study shows that the GBA E326K variant increases alpha-synuclein aggregation and lipid droplet accumulation in human cells without reducing GCase activity.
Human Molecular Genetics · Sep 18, 2022Peer-reviewedGenetics