Format

Send to

Choose Destination
See comment in PubMed Commons below
Autophagy. 2014 Jul;10(7):1350-1. doi: 10.4161/auto.29074. Epub 2014 May 15.

Glucocerebrosidase deficits in sporadic Parkinson disease.

Author information

1
Neuroscience Research Australia; School of Medical Sciences; Faculty of Medicine; University of New South Wales; Sydney, Australia.

Abstract

Parkinson disease (PD) is a progressive neurodegenerative movement disorder characterized pathologically by abnormal SNCA/α-synuclein protein inclusions in neurons. Impaired lysosomal autophagic degradation of cellular proteins is implicated in PD pathogenesis and progression. Heterozygous GBA mutations, encoding lysosomal GBA/glucocerebrosidase (glucosidase, β, acid), are the greatest genetic risk factor for PD, and reduced GBA and SNCA accumulation are related in PD models. Here we review our recent human brain tissue study demonstrating that GBA deficits in sporadic PD are related to the early accumulation of SNCA, and dysregulation of chaperone-mediated autophagy (CMA) pathways and lipid metabolism.

KEYWORDS:

Parkinson disease; autophagy; ceramide; chaperone-mediated autophagy; glucocerebrosidase; lysosomes; α-synuclein

PMID:
24915553
PMCID:
PMC4203563
DOI:
10.4161/auto.29074
[Indexed for MEDLINE]
Free PMC Article
PubMed Commons home

PubMed Commons

0 comments
How to join PubMed Commons

    Supplemental Content

    Full text links

    Icon for Taylor & Francis Icon for PubMed Central
    Loading ...
    Support Center