|
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is caused by mutations in the GBA gene that confer a deficient level of activity of glucocerebrosidase (GCase).
|
26142329 |
2015 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
A great deal is known about GBA1, as mutations in GBA1 are causal for the rare autosomal storage disorder Gaucher disease.
|
31464647 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the glucocerebrosidase (gba) gene cause Gaucher disease (GD), the most common lysosomal storage disorder, and increase susceptibility to Parkinson's disease (PD).
|
23707074 |
2013 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
LHGDN |
Functional analysis of 13 GBA mutant alleles identified in Gaucher disease patients: Pathogenic changes and "modifier" polymorphisms.
|
15146461 |
2004 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
This multicenter extension study assessed the efficacy and safety of taliglucerase alfa in pediatric patients with GD who were treatment-naïve (n=10) or switched from imiglucerase (n=5).
|
27839981 |
2018 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
The potential of these compounds as pharmaceutical chaperones was determined by analyzing their capacity for increasing GCase activity in GD lymphoblasts derived from N370S and L444P variants, two of the most prevalent Gaucher mutations.
|
21413704 |
2011 |