|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Our findings point to activation of wild-type GCase by small-molecule modulators as a potential therapeutic approach for treating familial and sporadic forms of PD that exhibit decreased GCase activity.
|
31619543 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The L444P mutation in the GBA1 gene which encodes β-glucocerebrosidase-1, is a major risk factor for developing Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
|
31539859 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
One of the leading genetic risk factors for Parkinson's disease is being a carrier in the gene for β-Glucocerebrosidase (GCase; gene name GBA1).
|
30738426 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Gaucher's disease is a lysosomal disease caused by mutations in the β-glucocerebrosidase gene ( GBA1 and GCase) that have been also linked to increased risk of Parkinson's disease (PD) and Diffuse Lewy body dementia.
|
30645117 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations in GBA, the gene encoding the lysosomal enzyme glucosylceramidase beta/β-glucocerebrosidase, comprise the most common genetic risk factor for Parkinson disease (PD), but the mechanisms underlying this association remain unclear.
|
30160596 |
2019 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The reduction of GCase activity in the CSF of PD and DLB patients was validated in several of them, whereas the behaviour of other lysosomal enzyme activities was not consistently reliable among the studies.
|
30922855 |
2019 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The risk for PD in these groups does not linearly increase with glucosylceramide (GC) accumulation or with acid β-glucocerebrosidase (GCase) activity.
|
27866808 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Modulation of β-glucocerebrosidase increases α-synuclein secretion and exosome release in mouse models of Parkinson's disease.
|
29547959 |
2018 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our newly discovered allosteric site and observed GCase dimerization provide a new mechanistic insight into GCase and its noniminosugar modulators and facilitate the rational design of novel GCase modulators for Gaucher's disease and Parkinson's disease.
|
29676907 |
2018 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding the lysosomal enzyme acid β-glucosidase (GBA) are responsible for Gaucher disease and represent the main genetic risk factor for developing Parkinson disease.
|
28727984 |
2017 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This review discusses the structural stability of acid-β-glucosidase, which can be altered by pH and glycosylation, and explores the relationship between known Gaucher disease and PD mutations, structural stability and disease severity.
|
28923368 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Being the most common genetic contributor to PD, glucocerebrosidase 1 (GBA) mutations have been associated with decreased GBA enzymatic activity in PD patients with mutations in the GBA gene (GBA-PD).
|
27780739 |
2017 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Cerebrospinal fluid β-glucocerebrosidase activity is reduced in parkinson's disease patients.
|
28843015 |
2017 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the β-glucocerebrosidase gene (GBA) have been implicated as a risk factor for Parkinson's disease (PD).
|
26000814 |
2016 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
This suggests that GCase activators may prove beneficial as treatments for PD and related synucleinopathies.
|
27445146 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We hypothesized that specific mutations in the β-glucocerebrosidase gene (GBA) causing neuropathic Gaucher's disease (GD) in homozygotes lead to aggressive cognitive decline in heterozygous Parkinson's disease (PD) patients, whereas non-neuropathic GD mutations confer intermediate progression rates.
|
27717005 |
2016 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In the last decade, several lines of evidence have been presented that document the clinical manifestations, genetic associations, and sub-cellular mechanisms of the inter-relatedness of β-glucocerebrosidase mutations and the emergence of Parkinson disease among carriers and patients with Gaucher disease.
|
25987177 |
2015 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
It has been shown that carrying one or two mutations in the β-glucocerebrosidase gene (GBA) for the autosomal disease Gaucher disease (GD), as based initially on clinical evidence, is a genetic risk factor for early-onset PD.
|
26406132 |
2015 |
|
Parkinson Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here we measured the activity of GCase and other endo-lysosomal enzymes in different brain regions (frontal cortex, caudate, hippocampus, substantia nigra, cerebellum) from PD (n = 26), DLB (n = 16) and age-matched control (n = 13) subjects, screened for GBA mutations.
|
25881142 |
2015 |
|
Parkinson Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
A PD effector is α-synuclein (SNCA) hypothesized to selectively interact with β-glucocerebrosidase under lysosomal conditions.
|
25111979 |
2014 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we have investigated motor and non-motor aspects in 1638 Chinese PD patients who carried LRRK2 G2385R or R1628P (LRRK2-PD, n = 223), GBA L444P variant (GBA-PD, n = 49), or none of the variants (idiopathic PD [IPD], n = 1366).
|
24095219 |
2014 |
|
Parkinson Disease
|
0.100 |
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 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In particular, several studies, despite individual differences, have shown that mutations in the β-glucocerebrosidase gene (GBA) are a risk factor for PD.
|
21745757 |
2012 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in beta-glucocerebrosidase gene (GBA) have been implicated in Parkinson disease (PD).
|
19383421 |
2009 |
|
Parkinson Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease.
|
18160183 |
2009 |