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Article

N370S-GBA1 mutation causes lysosomal cholesterol accumulation in Parkinson's disease.

Movement disorders : official journal of the Movement Disorder Society - 1 Oct 2017

García-Sanz Patricia, Orgaz Lorena, Bueno-Gil Guillermo, Espadas Isabel, Rodríguez-Traver Eva, Kulisevsky Jaime, Gutierrez Antonia, Dávila José C, González-Polo Rosa A, Fuentes José M, Mir Pablo, Vicario Carlos, Moratalla Rosario

Abstract excerpt

BACKGROUND: Heterozygous mutations in the GBA1 gene, which encodes the lysosomal enzyme β-glucocerebrosidase-1, increase the risk of developing Parkinson's disease, although the underlying mechanisms remain unclear. The aim of this study was to explore the impact of the N370S-GBA1 mutation on cellular homeostasis and vulnerability in a patient-specific cellular model of PD. METHODS: We isolated fibroblasts from 4...

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Identifiers

PMID: 28779532
DOI: 10.1002/mds.27119

Genes

GBA1
SQSTM1

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