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ProteomicsiPSC-derived neurons from GBA1-associated Parkinson's disease patients show autophagic/lysosomal dysfunction and impaired calcium homeostasis
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disorder Gaucher’s disease (GD), are the strongest genetic risk factor for Parkinson’s disease (PD) known to date. To elucidate the mechanisms underlying neurodegeneration in these patients, we generate...
ORGANISM(S): Homo sapiens (Human) 
2014-06-03 | PXD000866 | Pride
Tmt Neurons Human 
ProteomicsGBA1 interactome for understanding pathological mechanisms
Compound heterozygous or homozygous GBA1 mutations lead to Gaucher disease. Furthermore, GBA1 mutations are the most frequent risk factor for Parkinson’s disease. To get a better understanding of the pathological mechanisms, we generated inducible V5-Flag-Tag, V5-Flag-tagged WT, E326K and L444P mu...
ORGANISM(S): Homo sapiens (Human) 
2023-05-10 | PXD032155 | Pride
Tmt lc-ms Gba1 Inducible t-rex hek Proteome Interactome 
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