GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
Disease: Lewy Body Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the gene glucocerebrosidase (GBA1) are specifically associated with alpha-synucleinopathies, namely, Parkinson's disease (PD) and dementia with Lewy bodies. 31670439 2020
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE Mutations in the glucocerebrosidase (GBA) gene are a strong genetic risk factor for the development of Parkinson's disease and dementia with Lewy Bodies. 28728889 2017