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- W2913305529 endingPage "30" @default.
- W2913305529 startingPage "30" @default.
- W2913305529 abstract "In the last years, lysosomal storage diseases appear as a bridge of knowledge between rare genetic inborn metabolic disorders and neurodegenerative diseases such as Parkinson’s disease (PD) or frontotemporal dementia. Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD. We conducted a review of this link, highlighting the association in GBA mutation carriers and in Gaucher disease type 1 patients (GD type 1). A comprehensive review of the literature from January 2008 to December 2018 was undertaken. Relevance findings include: (1) There is a bidirectional interaction between GBA and α- synuclein in protein homeostasis regulatory pathways involving the clearance of aggregated proteins. (2) The link between GBA deficiency and PD appears not to be restricted to α–synuclein aggregates but also involves Parkin and PINK1 mutations. (3) Other factors help explain this association, including early and later endosomes and the lysosomal-associated membrane protein 2A (LAMP-2A) involved in the chaperone-mediated autophagy (CMA). (4) The best knowledge allows researchers to explore new therapeutic pathways alongside substrate reduction or enzyme replacement therapies." @default.
- W2913305529 created "2019-02-21" @default.
- W2913305529 creator A5052802862 @default.
- W2913305529 creator A5054258655 @default.
- W2913305529 creator A5057836351 @default.
- W2913305529 creator A5063259827 @default.
- W2913305529 creator A5091300605 @default.
- W2913305529 date "2019-02-01" @default.
- W2913305529 modified "2023-09-25" @default.
- W2913305529 title "Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency" @default.
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