|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Furthermore, mutations in GBA1, the gene mutated in GD, are an important risk factor for Parkinson's disease (PD).
|
31669751 |
2020 |
|
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 |
BEFREE |
Pathological mutations in GBA, encoding lysosomal glucocerebrosidase (GCase), cause Gaucher disease (GD).
|
31233883 |
2019 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Intravenous infusion of iPSC-derived neural precursor cells increases acid β-glucosidase function in the brain and lessens the neuronopathic phenotype in a mouse model of Gaucher disease.
|
31373366 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease type 3c (GD3c) is a rare subtype of the subacute/chronic neuronopathic GD3, caused by homozygosity for the GBA p.Asp448His (D409H) mutation.
|
31130326 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease (GD) is a rare inherited metabolic disease caused by pathogenic variants in the GBA1 gene.
|
30988500 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
To detect the therapeutic effects of the AAV9-mediated Gba transfer on the systemic symptoms of GD, an inducible whole-body Gba knockout mouse was developed in which tamoxifen effectively induced whole-body Gba gene deletion, and the mice displayed systemic symptoms of GD.
|
30122074 |
2019 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene.
|
31077260 |
2019 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
Production of recombinant human acid β-glucosidase with high mannose-type N-glycans in rice gnt1 mutant for potential treatment of Gaucher disease.
|
30822514 |
2019 |
|
Gaucher Disease
|
0.900 |
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 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
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 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Ambroxol is a pharmacological chaperone (PC) for Gaucher disease that increases lysosomal activity of misfolded β-glucocerebrosidase (GCase) while displaying a safe toxicological profile.
|
31222941 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
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 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
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 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Homozygous and heterozygous mutations in GBA1, the gene implicated in Gaucher disease, increase the risk and severity of Parkinson disease (PD).
|
31288942 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations.
|
31401455 |
2019 |
|
Gaucher Disease
|
0.900 |
Biomarker
|
disease |
BEFREE |
In this review, we discuss evidence linking autophagic dysfunction to the pathophysiology of GD and GBA1-linked parkinsonism and focus more specifically on studies performed recently in iPSC-derived neurons.
|
29550539 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease is a rare pan-ethnic, lysosomal storage disorder resulting due to beta-Glucosidase (GBA1) gene defect.
|
30764785 |
2019 |
|
Gaucher Disease
|
0.900 |
AlteredExpression
|
disease |
BEFREE |
Effect of imiglucerase enzyme replacement therapy on Hepatopulmonary Syndrome in Gaucher Disease.
|
31309038 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Genetic analysis revealed a homozygous L444P mutation of GBA, and he was diagnosed with type 1 GD.
|
30456712 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Bi-allelic mutations in the glucocerebrosidase gene (GBA1) cause Gaucher's disease, the most common human lysosomal storage disease.
|
30981829 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Causal mutations in the glucocerebrosidase 1 (GBA1) commonly lead to abnormal protein and GD, heterozygosity is a genetic risk factor for Parkinson's disease.
|
31678773 |
2019 |
|
Gaucher Disease
|
0.900 |
GeneticVariation
|
disease |
BEFREE |
Gaucher disease is caused by mutations in GBA1 encoding acid β-glucosidase (GCase).
|
30944381 |
2019 |