Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations in GBA1, the gene mutated in GD, are an important risk factor for Parkinson's disease (PD).
|
31669751 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Although the exact mechanism by which GBA1 mutations promote PD is unknown, current understanding suggests that impaired GCase inhibits lysosomal activity and decreases the overall ability of the cell to degrade proteins, specifically the neuronal protein α-synuclein.
|
31761523 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We performed a genome-wide association study and analysed the most recent Parkinson's disease-associated genetic risk score to detect genetic influences on GBA risk and age at onset.
|
31755958 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Screening of the GBA1 gene and analysis of CSF levels of total alpha-synuclein were performed in 80 PD<sub>GBA</sub> , 80 PD<sub>GBA</sub> _<sub>wildtype</sub> and 39 healthy controls cross-sectionally.
|
31670439 |
2020 |
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
The presence of GBA1 gene mutations increases risk for Parkinson's disease (PD), but the pathogenic mechanisms of GBA1 associated PD remain unknown.
|
31634558 |
2020 |
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
In preparation for upcoming precision medicine-designed clinical trials for GBA and LRRK2, we evaluated movement disorders specialists' current practice, knowledge, attitudes, and barriers to genetic testing in PD.
|
31680121 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Nanopore sequencing of the glucocerebrosidase (GBA) gene in a New Zealand Parkinson's disease cohort.
|
31809948 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Minor alleles of GBA variants rs76763715, rs421016, rs387906315 and rs80356773 were associated with more depressive symptoms in PD.
|
31292011 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We aimed to examine whether non-manifesting carriers of LRRK2 and GBA mutations have prodromal features of Parkinson's disease that correlate with reduced DAT binding.
|
31678032 |
2020 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The finding that mutations in the Gaucher's Disease (GD) gene GBA1 are a strong risk factor for Parkinson's Disease (PD) has allowed for unique insights into pathophysiology centered on disruption of the autophagic-lysosomal pathway.
|
29550539 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA cause Gaucher disease when biallelic and are strong risk factors for Parkinson's disease when heterozygous.
|
30637984 |
2019 |
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
Despite the evidence of multiple lysosomal genetic risks, it remains unclear how sphingolipid hydrolase activities, other than GBA, are altered with ageing or in PD.
|
31703585 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA comprise the most common risk factor for PD and initiate pathology by compromising lysosomal function.
|
31287913 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We confirmed the gross deletion mutation in the GBA gene, which appeared to be associated with the PD or reduced [<sup>123</sup>I] FP-CIT in this family.
|
30528172 |
2019 |
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
With regard to GBA-PD, iPSCs offer several advantages including the possibility of investigating sphingolipid (SPL) biology in relevant cells, the role of dopamine metabolism as well as non-cell autonomous mechanisms that are likely involved in the disease process.
|
30711484 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Using high-resolution, single-cell transcriptomic analyses of iPSC-derived dopamine neurons carrying the GBA-N370S PD risk variant, we identified a progressive axis of gene expression variation leading to endoplasmic reticulum stress.
|
30503143 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This implies that mutant GBA1 allele is a predisposing factor for the development of PD.
|
30615125 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
GBA1 heterozygous mutations profoundly impair GCase activity and are currently recognized as an important risk factor for the development of Parkinson's disease (PD).
|
30521842 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multiple studies show that mutations in GBA1 gene and decreased glucocerebrosidase activity are associated with increased risk for Parkinson disease.
|
31613991 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
However, most GBA genetic studies in PD have been performed in patients of European origin and very few data are available in other populations.
|
30765263 |
2019 |
Parkinson Disease
|
0.500 |
Biomarker
|
disease |
BEFREE |
An additional 17 PD patients were identified with GBA-associated PD.
|
29842932 |
2019 |
Parkinson Disease
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Our findings point to activation of wild-type GCase by small-molecule modulators as a potential therapeutic approach for treating familial and sporadic forms of PD that exhibit decreased GCase activity.
|
31619543 |
2019 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Epidemiological studies helped promote research in the field that continues to improve our understanding of the link between mutations in the glucocerebrosidase (GBA) gene and PD.
|
30717266 |
2019 |
Parkinson 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 |
Parkinson Disease
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Heterozygous mutations of the lysosomal enzyme glucocerebrosidase (GBA1) represent the major genetic risk for Parkinson's disease (PD), while homozygous GBA1 mutations cause Gaucher disease, a lysosomal storage disorder, which may involve severe neurodegeneration.
|
31685979 |
2019 |