GeneticsHuman Molecular GeneticsPeer-reviewed
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…·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.
13 citations