|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
In this work, we provide evidence that the Wnt signaling multi-domain intracellular transducers DISHEVELLED 1 and 2 (DVL1 and DVL2) may be potential upstream targets of impaired beta glucosidase (GBA1) activity by showing their misexpression in different type 1 Gaucher disease in vitro models.
|
31816052 |
2020 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
|
30712880 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
Type 1 Gaucher disease (GD1), a glycosphingolipid storage disorder caused by deficient activity of lysosomal glucocerebrosidase, is classically considered non-neuronopathic.
|
31613991 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Gaucher disease is an inherited metabolic disease caused by genetic acid β -glucosidase (GBA) deficiency and is currently treated by enzyme replacement therapy.
|
30822514 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
AlteredExpression
|
disease |
BEFREE |
This study provides novel pharmacokinetic data that support current imiglucerase administration regimens and suggests the existence of a glucocerebrosidase activity threshold related to Gaucher disease type 1 aggressiveness.
|
30128966 |
2019 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Both patients with non-neuronopathic Gaucher disease (GD) and heterozygous GBA mutation carrier are at increased risk for Parkinson disease (PD).
|
27866808 |
2018 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Together, this comprehensive data set supports the treatment of adult and paediatric patients with GD who are naïve to ERT or who have previously been treated with imiglucerase.
|
29471850 |
2018 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Integrated Genetic Analysis of Racial Differences of Common GBA Variants in Parkinson's Disease: A Meta-Analysis.
|
29527153 |
2018 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Early manifestations of type 1 Gaucher disease in presymptomatic children diagnosed after parental carrier screening.
|
27735925 |
2017 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.
|
26905200 |
2016 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Mutations of glucocerebrosidase gene and susceptibility to Parkinson's disease: An updated meta-analysis in a European population.
|
26868973 |
2016 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Specifically neuropathic Gaucher's mutations accelerate cognitive decline in Parkinson's.
|
27717005 |
2016 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Differential effects of severe vs mild GBA mutations on Parkinson disease.
|
25653295 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings demonstrate that loss of GBA function may contribute to SNCA accumulation through inhibition of autophagy via PPP2A inactivation, thereby providing a mechanistic basis for the increased PD risk associated with GBA deficiency.
|
26378614 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Loss of lysosomal glucocerebrosidase (GBA1) function is responsible for several organ defects, including skeletal abnormalities in type 1 Gaucher disease (GD).
|
25326392 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Gaucher disease types 1 and 3: Phenotypic characterization of large populations from the ICGG Gaucher Registry.
|
26096741 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Anti-apoptotic and Beneficial Metabolic Activities of Resveratrol in Type II Gaucher Disease.
|
26027833 |
2015 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
iPSC-derived dopamine neurons reveal differences between monozygotic twins discordant for Parkinson's disease.
|
25456120 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in the glucocerebrosidase gene of Indian patients with Gaucher disease.
|
24522292 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Novel heterozygous c.798C>G and c.1040T>G mutations in the GBA1 gene are associated with a severe phenotype of Gaucher disease type 1.
|
24577513 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Functional analysis of 11 novel GBA alleles.
|
24022302 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.
|
25127542 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is the most common glycolipid storage disorder resulting from glucocerebrosidase deficiency due to mutations in the GBA gene.
|
24522292 |
2014 |
|
Gaucher Disease, Type 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Two novel mutations in glucocerebrosidase, C23W and IVS7-1 G>A, identified in Type 1 Gaucher patients heterozygous for N370S.
|
24434810 |
2014 |