GBA, glucosylceramidase beta, 2629

N. diseases: 319; N. variants: 157
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 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 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 Variants in GBA, encoding the enzyme glucocerebrosidase, are associated with Lewy body diseases such as Parkinson's disease and Lewy body dementia. 31755958 2020
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 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 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 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 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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 GeneticVariation disease BEFREE Similar to PD, pathogenic GBA1 mutations seem to be associated with CSF alpha-synuclein profiles in dementia with Lewy bodies. 31189032 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 GeneticVariation disease BEFREE GBA1 mutations, which result in the lysosomal disorder Gaucher disease, are the most common known genetic risk factor for Parkinson disease and Dementia with Lewy Bodies (DLB). 31188151 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 Biomarker disease BEFREE For example, research has expanded our knowledge of the proteinaceous inclusions that characterize the disease, has provided an appreciation of the role of disease-associated processes such as inflammation and has revealed an association between DLB and genes such as GBA. 30559465 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 AlteredExpression disease BEFREE We also briefly summarize the development of targeted therapies for GBA1-associated synucleinopathies and highlight that modulation of wild-type GCase activity serves as an important target for the treatment of genetic and idiopathic forms of PD and dementia with Lewy bodies. 31351996 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 GeneticVariation disease BEFREE The results of our study confirm findings from previous studies, suggesting a role for GCase in GBA-associated as well as sporadic PD and DLB. 29948939 2019
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 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
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
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 GeneticVariation disease BEFREE Heterozygous mutations in glucocerebrosidase 1 (GBA1) are a major genetic risk factor for Parkinson's disease and Dementia with Lewy bodies. 29703245 2018
CUI: C0752347
Disease: Lewy Body Disease
Lewy Body Disease
0.500 Biomarker disease BEFREE Taken together, these studies provide mechanistic insights into how GBA1 regulates the transition from monomeric α-syn to α-syn tetramers and multimers and suggest unique therapeutic opportunities for PD and dementia with Lewy bodies. 29311330 2018
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