|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The c.260G>A and c.999G>A missense mutations are described here for the first time in GD patients contributing to the panel of reported GBA mutations.
|
17395504 |
2007 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].
|
18178337 |
2008 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Gaucher disease (GD) is a heterogeneous disease characterized by an impaired activity of the lysosomal glucocerebrosidase.
|
14757438 |
2004 |
|
Gaucher Disease
|
0.900 |
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 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
[Detection of the frequencies of GBA gene major mutations in patients with Gaucher disease in Ukraine].
|
18030725 |
2008 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Efficient pharmacological chaperones for the L444P (trafficking-incompetent) mutant GCase enzyme associated with type 2 and 3 Gaucher disease (GD) were identified.
|
23606264 |
2013 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Whilst bi-allelic GBA mutations cause Gaucher disease, both mono- and bi-allelic mutations confer risk for Parkinson's disease.
|
26743617 |
2016 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gaucher's disease (GD) is an autosomal recessive disorder caused by a deficiency of acid β-glucosidase (glucocerebrosidase [GBA]) that results in the accumulation of glucocerebroside within macrophages.
|
27098793 |
2016 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A frequent LSD is Gaucher disease (GD), caused by autosomal recessively inherited mutations in GBA1, resulting in functional defects of the encoded enzyme, acid β-glucosidase (glucocerebrosidase, GCase).
|
29478824 |
2018 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Moreover, this similarity between GBA carriers and patients with GD persists when comparing only carriers of the N370S (c.1226A>G) mutation (n = 38) with untreated patients with GD who were homozygotes for the same mutation (n = 47).
|
30714262 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
CLINVAR |
Hematologically important mutations: Gaucher disease.
|
16185900 |
2006 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GBA1 lead to Gaucher's disease and are a major risk factor for Parkinson's disease (PD) and Dementia with Lewy bodies (DLB), synucleinopathies characterized by accumulation of intracellular α-synuclein.
|
29579237 |
2018 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
In nonneuronopathic type 1 Gaucher disease (GD1), mutations in the glucocerebrosidase gene (GBA1) gene result in glucocerebrosidase deficiency and the accumulation of its substrate, glucocerebroside (GL-1), in the lysosomes of mononuclear phagocytes.
|
20962279 |
2010 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding beta-glucocerebrosidase are the main cause of Gaucher disease.
|
9556036 |
1998 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease: expression and characterization of mild and severe acid beta-glucosidase mutations in Portuguese type 1 patients.
|
10757640 |
2000 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD), characterized by glucosylceramide accumulation in the macrophage-monocyte system, is caused by glucosidase b acid (GBA) gene mutations which lead to the deficiency of lysosomal enzyme glucocerebrosidase.
|
30461613 |
2018 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GBA gene encoding glucocerebrosidase cause Gaucher disease (GD), the most prevalent of the lysosomal storage disorders (LSDs) and increase susceptibility to Parkinson disease (PD).
|
23989665 |
2013 |
|
Gaucher Disease
|
0.900 |
CausalMutation
|
disease |
CLINVAR |
Clinical and molecular characteristics of patients with Gaucher disease in Southern China.
|
27865684 |
2018 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Pathological mutations in GBA, encoding lysosomal glucocerebrosidase (GCase), cause Gaucher disease (GD).
|
31233883 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the GBA gene pathogenic for neuropathic GD and complex alleles shift longitudinal cognitive decline in PD into "high gear."
|
27717005 |
2016 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, loss-of-function GBA1 mutations lead to Gaucher Disease and are a significant risk factor for Parkinson Disease, which have been associated with defective autophagy.
|
28933588 |
2017 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This suggests the possibility that mutations in NPC1 could be a risk factor for Parkinson's disease similar to the phenomenon that is now recognized with Gaucher disease and the glucocerebrosidase (GBA) gene.
|
24035292 |
2013 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
|
30712880 |
2019 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Enzyme replacement therapy with alglucerase is the treatment of choice for patients with Gaucher's disease, but it is yet to be shown whether alglucerase reduces the risk of these complications during pregnancy and whether its use has any adverse effect on fetal development.
|
9643638 |
1998 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Processing of acid beta-glucosidase in fibroblasts from three of four type 1 (nonneuronopathic) Ashkenazi Jewish Gaucher disease patients was nearly normal.
|
2495719 |
1989 |