Article
Glucocerebrosidase is imported into mitochondria and preserves complex I integrity and energy metabolism.
Nature communications - 6 Apr 2023
Baden Pascale, Perez Maria Jose, Raji Hariam, Bertoli Federico, Kalb Stefanie, Illescas María, Spanos Fokion, Giuliano Claudio, Calogero Alessandra Maria, Oldrati Marvin, Hebestreit Hannah, Cappelletti Graziella, Brockmann Kathrin, Gasser Thomas, Schapira Anthony H V, Ugalde Cristina, Deleidi Michela
Abstract excerpt
Mutations in GBA1, the gene encoding the lysosomal enzyme β-glucocerebrosidase (GCase), which cause Gaucher's disease, are the most frequent genetic risk factor for Parkinson's disease (PD). Here, we employ global proteomic and single-cell genomic approaches in stable cell lines as well as induced pluripotent stem cell (iPSC)-derived neurons and midbrain organoids to dissect the mechanisms underlying...
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