N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.
Patricia García-SanzLorena OrgazGuillermo Bueno-GilIsabel EspadasEva Rodríguez-TraverJaime KulisevskyAntonia GutierrezJosé C DávilaRosa A González-PoloJosé M FuentesPablo MirCarlos VicarioRosario MoratallaPublished in: Movement disorders : official journal of the Movement Disorder Society (2017)
Our results support a connection between the loss of β-glucocerebrosidase-1 function, cholesterol accumulation, and the disruption of cellular homeostasis in GBA1-PD. Our work reveals new insights into the cellular pathways underlying PD pathogenesis, providing evidence that GBA1-PD shares common features with lipid-storage diseases. © 2017 International Parkinson and Movement Disorder Society.
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