N370S<i>‐GBA1</i> mutation causes lysosomal cholesterol accumulation in Parkinson's disease

2017116 citationsJournal Article

Authors

Patricia García‐Sanz · Instituto Cajal

Lorena Orgaz · Instituto Cajal

Guillermo Bueno‐Gil · Instituto Cajal

Isabel Espadas · Instituto Cajal

Eva Rodríguez‐Traver · Instituto Cajal

Jaime Kulisevsky · Hospital de Sant Pau

Antonia Gutiérrez ·

Abstract

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.

Topics & Keywords

Lysosomal Storage Disorders Research Autophagy in Disease and Therapy Cellular transport and secretion

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Publication Details

Published in: Movement Disorders

Volume 32, Issue 10, pp. 1409-1422

DOI: 10.1002/mds.27119

Field-Weighted Citation Impact: 5.44