Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucocerebrosidase (GBA) gene are a risk factor for the development of dementia with Lewy bodies (DLB).
|
27723861 |
2016 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucosidase, beta, acid (GBA1) gene cause Gaucher's disease, and are the most common genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB) excluding variants of low penetrance.
|
27019408 |
2016 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA1, the gene encoding glucocerebrosidase, are associated with an enhanced risk of developing synucleinopathies such as Parkinson's disease (PD) and dementia with Lewy bodies.
|
27126635 |
2016 |
Lewy Body Disease
|
0.500 |
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 |
Lewy Body Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Lysosomal glucosidase beta acid (GBA) deficiency is inherent to Gaucher disease, Parkinsonism and Lewy-body dementia.
|
25552189 |
2015 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Recent multicenter genetic studies have revealed that mutations in the glucocerebrosidase 1 (GBA1) gene, which are responsible for Gaucher's disease, are strong risk factors for PD and DLB.
|
26362253 |
2015 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Despite the wealth of experimental, clinical and genetic evidence that supports the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear.
|
25573151 |
2015 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We have previously shown that the p.N370S variant in GBA is associated with DLB, which, together with the findings at the SCARB2 locus, suggests a role for lysosomal dysfunction in this disease.
|
24973356 |
2014 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk factor for developing the synucleinopathies Parkinson disease (PD) and dementia with Lewy bodies.
|
23297226 |
2013 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conducted pooled analyses using logistic regression to investigate GBA1 mutation carrier status as predicting DLB or PD with dementia status, using common control subjects as a reference group.
|
23588557 |
2013 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GBA1 mutations have been implicated in Lewy body diseases (LBDs), such as Parkinson's disease and dementia with Lewy bodies.
|
23435096 |
2013 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We screened the entire GBA coding region for mutations in controls and in subjects with dementia and LBDNCs and no or low levels of ADNCs (pure dementia with Lewy bodies [pDLB]), LBDNCs and high-level ADNCs (LBD-AD), and high-level ADNCs but without LBDNCs (AD).
|
23035075 |
2012 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase).
|
22803570 |
2012 |
Lewy Body Disease
|
0.500 |
Biomarker
|
disease |
CTD_human |
Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase).
|
22803570 |
2012 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Despite the wealth of clinical and genetic evidence supporting the association between mutant genotypes and synucleinopathy risk, the precise mechanisms by which GBA1 mutations lead to PD and DLB remain unclear.
|
22327140 |
2012 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Acid β-glucosidase mutants linked to Gaucher disease, Parkinson disease, and Lewy body dementia alter α-synuclein processing.
|
21472771 |
2011 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
LHGDN |
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
|
18852351 |
2008 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucocerebrosidase (GBA) gene have been reported to modify risk for Parkinson disease (PD) and dementia with Lewy bodies (DLB).
|
18332251 |
2008 |
Lewy Body Disease
|
0.500 |
CausalMutation
|
disease |
CLINVAR |
|
|
|