Lena F. Burbulla

This study conducts a genome-wide association study of copy number variations in Parkinson's disease, identifying a significant PRKN deletion but limited replication in an independent dataset.

This study shows that DJ-1 deficiency impairs VMAT2 function and vesicle dynamics, leading to dopamine oxidation and α-synuclein pathology in Parkinson's disease neurons.

GluTrooper is a mouse line for whole-brain glutamate imaging with long-lasting sensor expression and multimodal imaging capabilities.

This study shows that DJ-1 mutations impair astrocytic dopamine metabolism, leading to disrupted detoxification and potential contribution to Parkinson's disease pathogenesis.

The paper uses iPSC-derived microglia from BPAN patients to identify immune-related alterations and immunomodulatory signaling changes, revealing a shift to a reactive, disease-associated state.