|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Glucocerebrosidase deficiency appears to be associated with increased α-synuclein aggregation and accumulation, mitochondrial dysfunction because of impaired autophagy, and increased endoplasmic reticulum stress.
|
31188151 |
2019 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
α-Synuclein aggregation has been linked to Gaucher's disease (GD) and Krabbe's disease (KD), lysosomal conditions affecting glycosphingolipid metabolism.
|
29481565 |
2018 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA1 lead to Gaucher's disease and are a major risk factor for Parkinson's disease (PD) and Dementia with Lewy bodies (DLB), synucleinopathies characterized by accumulation of intracellular α-synuclein.
|
29579237 |
2018 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
We show that, whereas GD-related sphingolipids (glucosylceramide, glucosylsphingosine, sphingosine, sphingosine-1-phosphate) promote α-synuclein aggregation <i>in vitro</i>, glucosylsphingosine triggers the formation of oligomeric α-synuclein species capable of templating in human cells and neurons.
|
28847804 |
2017 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Impaired lysosomal-autophagic degradation of cellular proteins, including α-synuclein (α-syn), is implicated in the pathogenesis of PD, and there is increasing evidence for this also in GD and <i>GBA1</i>-PD.
|
28469644 |
2017 |
|
Gaucher Disease
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
In addition, the small-molecule chaperone reduced α-synuclein levels in dopaminergic neurons, indicating that chaperoning glucocerebrosidase to the lysosome may provide a novel therapeutic strategy for both Parkinson disease and neuronopathic forms of Gaucher disease.
|
27413154 |
2016 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Glucocerebrosidase Deficiency in Drosophila Results in α-Synuclein-Independent Protein Aggregation and Neurodegeneration.
|
27019408 |
2016 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Glucocerebrosidase deficiency accelerates the accumulation of proteinase K-resistant α-synuclein and aggravates neurodegeneration in a Drosophila model of Parkinson's disease.
|
26362253 |
2015 |
|
Gaucher Disease
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
SNCA polymorphism rs356219 may be associated with early-age-onset PD, common among patients with GD+PD.
|
25111979 |
2014 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Neuroinflammation and α-synuclein accumulation in response to glucocerebrosidase deficiency are accompanied by synaptic dysfunction.
|
24388731 |
2014 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this review we discuss recent studies advancing our understanding of the cellular relationship between glucocerebrosidase and α-synuclein, the potential impact of established and emerging therapeutics for Gaucher disease for the treatment of the synucleinopathies, and the role of lysosomal pathways in the pathogenesis of these neurodegenerative disorders.
|
24531622 |
2014 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aggregation and inclusion bodies of α-synuclein with ubiquitin are present in the brains of Gaucher disease patients and mouse models.
|
24599400 |
2014 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings suggest that additional interaction pathways together with aberrant GCase and ASYN must govern this complex relation between GD and PD.
|
23580063 |
2013 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
In this review, we will examine the potential relationship between Gaucher disease and the synucleinopathies, a group of neurodegenerative disorders characterized by the development of intracellular aggregates of α-synuclein.
|
22289779 |
2012 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
The aim of this study was to determine whether there is a relationship between alpha-synuclein (alpha-syn), a key protein in Parkinson's disease pathogenesis, and abnormalities in glucocerebroside (GC) catabolism that lead to the development of Gaucher disease.
|
19576930 |
2009 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
CTD_human |
The aim of this study was to determine whether there is a relationship between alpha-synuclein (alpha-syn), a key protein in Parkinson's disease pathogenesis, and abnormalities in glucocerebroside (GC) catabolism that lead to the development of Gaucher disease.
|
19576930 |
2009 |
|
Gaucher Disease
|
0.400 |
Biomarker
|
disease |
BEFREE |
Neuropathology in a group of these patients showed alpha-synuclein-reactive Lewy bodies in brain regions specifically associated with Gaucher disease.
|
15464415 |
2005 |