Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells

Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for sporadic Parkinson's disease (PD). Defective GCase has been reported in fibroblasts of GBA1-mutant PD patients and pharmacological chaperone ambroxol has been shown to corr...

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Bibliographic Details
Main Authors: Giulia Ambrosi, Cristina Ghezzi, Roberta Zangaglia, Giovanna Levandis, Claudio Pacchetti, Fabio Blandini
Format: Article
Language:English
Published: Elsevier 2015-10-01
Series:Neurobiology of Disease
Subjects:
Glucocerebrosidase
Saposin C
LIMP-2
Parkinson's disease
Lysosomes
Fibroblasts
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996115002260

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