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Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency

1
Department of Neurology, Parkinson’s Disease and Movement Disorders Section, Institute of Neuroscience of Buenos Aires (INEBA), Guardia Vieja 4435, Buenos Aires C1192AAW, Argentina
2
Hospital de Niños Ricardo Gutiérrez, Gallo 1330, Buenos Aires C1425EFD, Argentina
*
Author to whom correspondence should be addressed.
Brain Sci. 2019, 9(2), 30; https://doi.org/10.3390/brainsci9020030
Received: 2 January 2019 / Revised: 25 January 2019 / Accepted: 30 January 2019 / Published: 1 February 2019
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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. View Full-Text
Keywords: glucocerebrosidase; Parkinson’s disease; Gaucher disease glucocerebrosidase; Parkinson’s disease; Gaucher disease
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Gatto, E.M.; Da Prat, G.; Etcheverry, J.L.; Drelichman, G.; Cesarini, M. Parkinsonisms and Glucocerebrosidase Deficiency: A Comprehensive Review for Molecular and Cellular Mechanism of Glucocerebrosidase Deficiency. Brain Sci. 2019, 9, 30.

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