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 CausalMutation disease CLINVAR
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease LHGDN The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. 18852351 2008
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 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 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 Lewy body disease (LBD) development is enhanced by mutations in the GBA gene coding for glucocerebrosidase (GCase). 22803570 2012
CUI: C0752347
Disease: Lewy Body Disease
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
CUI: C0752347
Disease: Lewy Body Disease
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
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 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 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 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 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 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 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
CUI: C0752347
Disease: Lewy Body Disease
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
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 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 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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease 		0.500 GeneticVariation disease BEFREE More recently, association and exome sequencing studies in larger groups have been conducted, and have shown that several variants in GBA and the APOE ε4 allele are important genetic risk factors for DLB. 28734699 2017
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 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 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 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