Lysosomal Storage Diseases
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0.100 |
GeneticVariation
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group |
BEFREE |
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect.
|
30764785 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
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group |
BEFREE |
Background Gaucher disease (GD) is a lysosomal storage disorder caused by autosomal recessive mutations in the glucocerebrosidase (GBA) gene, which encodes acid β-glucosidase.
|
31026225 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gaucher disease is one of the most common types of LSDs caused by mutations to the lysosomal β-glucocerebrosidase (GBA).
|
31754156 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
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group |
BEFREE |
Defects in GBA that result in overall loss of enzymatic activity give rise to the lysosomal storage disorder Gaucher disease, which is characterized by the accumulation of glucosylceramide in tissue macrophages.
|
30895685 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease.
|
30981829 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GBA2 was proposed as a modifier of Gaucher disease, a lysosomal storage disease resulting from deficient β-glucosidase 1; GBA1.
|
30864417 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Until this point however, recapitulation of the symptoms and pathology of LBD has been limited to a homozygous GBA1 mouse model which genetically and enzymatically reflects the lysosomal storage disorder Gaucher's disease.
|
31299418 |
2019 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gaucher disease is an autosomal recessive lysosomal storage disorder resulting from mutations in the gene GBA1 that lead to a deficiency in the enzyme glucocerebrosidase.
|
30098107 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in GBA1 gene lead to Gaucher's disease, the most prevalent lysosomal storage disorder.
|
28835999 |
2018 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Parkinson disease (PD) is the second most common neurodegenerative disorder after Alzheimer disease, whereas Gaucher disease (GD) is the most frequent lysosomal storage disorder caused by homozygous mutations in the glucocerebrosidase (GBA1) gene.
|
26860875 |
2016 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
GBA1 is a lysosomal hydrolase whose deficiency causes Gaucher disease, the most prevalent inherited lysosomal storage disorder.
|
26582417 |
2016 |
Lysosomal Storage Diseases
|
0.100 |
AlteredExpression
|
group |
BEFREE |
Mutations in the gene that encodes the lysosomal enzyme acid β-glucosidase lead to reduced cellular activity and accumulation of glycosphingolipid substrates, biochemical hallmarks of the lysosomal storage disorder Gaucher disease (GD).
|
24894562 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the acid β-glucocerebrosidase (GBA1) gene, responsible for the lysosomal storage disorder Gaucher's disease (GD), are the strongest genetic risk factor for Parkinson's disease (PD) known to date.
|
24905578 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Gaucher disease is the most frequent lysosomal storage disorder due to the deficiency of the acid β-glucosidase, encoded by the GBA gene.
|
24022302 |
2014 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Gaucher disease (GD) is the most common of the lysosomal storage disorders and is caused by defects in the GBA gene encoding glucocerebrosidase (GlcCerase).
|
23936319 |
2013 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
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 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Mutations in the gene encoding glucocerebrosidase (GBA1) cause Gaucher disease (GD), a lysosomal storage disease with recessive inheritance.
|
23435096 |
2013 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Heterozygous loss-of-function mutations in the acid beta-glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal storage disorder, Gaucher's disease (GD), are the strongest known risk factor for Parkinson's disease (PD).
|
23225227 |
2013 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Gaucher disease is a lysosomal storage disease resulting from a defect in the enzyme acid β-glucosidase 1. β-glucosidase 2 is an enzyme with similar glucosylceramidase activity but to date has not been associated with a monogenic disorder.
|
23332917 |
2013 |
Lysosomal Storage Diseases
|
0.100 |
Biomarker
|
group |
BEFREE |
Gaucher disease is a lysosomal storage disorder caused by a defect in the degradation of glucosylceramide catalyzed by the lysosomal enzyme β-glucocerebrosidase (GBA).
|
22337770 |
2012 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gaucher disease (GD), the most common lysosomal storage disorder (LSD), is caused by the defective activity of the lysosomal hydrolase glucocerebrosidase, which is encoded by the GBA gene.
|
21954067 |
2011 |
Lysosomal Storage Diseases
|
0.100 |
GeneticVariation
|
group |
BEFREE |
Gaucher disease is the most frequent lysosomal storage disorder due to the autosomal recessive deficiency of acid β-glucosidase.
|
21036086 |
2011 |