Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Variants in the ASH1L/GBA (Chr1q22) and APOE ε4 (Chr19) loci were associated with DLB surpassing the genome-wide significance threshold (p < 5 × 10<sup>-8</sup>).
|
31065058 |
2019 |
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 |
LHGDN |
The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.
|
18852351 |
2008 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Age-related neurochemical and behavioural changes in D409V/WT GBA1 mouse: Relevance to lewy body dementia.
|
31299418 |
2019 |
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 thus propose that acid ceramidase inhibition which restores ceramide levels may be a potential therapeutic strategy to target synucleinopathies linked to GBA1 mutations including PD and DLB.
|
29579237 |
2018 |
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 |
GBA1 mutations reduce GCase activity, therefore promoting the aggregation of alpha-synuclein, a common neuropathological finding underlying Parkinson's disease (PD) and dementia with Lewy bodies.
|
28835999 |
2018 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Since the observation of its relation to PD, GBA1 mutations have become recognized as the most common genetic risk factor for development of synucleinopathies such as PD and dementia with Lewy bodies.
|
31761523 |
2020 |
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 |
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 |
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 |
Mutations in the GBA1 gene, which encodes the lysosomal enzyme Glucocerebrosidase1 are major risk factors for Parkinson's disease (PD) and dementia with Lewy bodies (DLB).
|
31203165 |
2019 |
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 |
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 |
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 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
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 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, genetic and clinicopathological studies have revealed mutations in the glucocerebrosidase 1 (GBA1) gene, which encodes a degrading enzyme for the glycolipid glucosylceramide (GlcCer), as strong risk factors for PD and DLB, and we recently demonstrated that GlcCer promotes toxic conversion of αSyn.
|
29305919 |
2018 |
Lewy Body Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The characterization of a direct link between mutations in the gene coding for glucocerebrosidase (GBA1) with the development of Parkinson's disease and dementia with Lewy bodies has heightened interest in this enzyme.
|
30589955 |
2019 |
Lewy Body Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Author Correction: GBA and APOE ε4 associate with sporadic dementia with Lewy bodies in European genome wide association study.
|
31619746 |
2019 |
Lewy Body Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA1, the gene encoding the lysosomal hydrolase glucocerebrosidase, have been identified as the most common genetic risk factor for PD and DLB.
|
30236861 |
2019 |
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 |
Glucocerebrosidase (GBA) gene variants are associated with the development of the Lewy body disorders (LBD) Parkinson disease (PD) and dementia with Lewy bodies (DLB).
|
29487000 |
2018 |