FAQ

GBA wt Allele

Known as: GC, GBA1, GLUC 
Human GBA wild-type allele is located in the vicinity of 1q22 and is approximately 10 kb in length. This allele, which encodes glucosylceramidase… (More)

Topic mentions per year

Topic mentions per year

1988-2017
05101519882017

Related topics

Related topics

2 relations

Broader (1)

GBA gene
Hydrolysis

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
GBA wt Allele
Hydrolysis
GBA gene

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2015
2015
Ambroxol-induced rescue of defective glucocerebrosidase is associated with increased LIMP-2 and saposin C levels in GBA1 mutant Parkinson's disease cells.
Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for… (More)
Is this relevant?
2015
2015
Glucocerebrosidase gene therapy prevents α-synucleinopathy of midbrain dopamine neurons
Diminished lysosomal function can lead to abnormal cellular accumulation of specific proteins, including α-synuclein… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2015
2015
Activation of p38 Mitogen-Activated Protein Kinase in Gaucher’s Disease
Gaucher's disease is caused by defects in acid β-glucosidase 1 (GBA1) and has been also proposed as an inflammatory disease. GBA1… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
2015
2015
Glucocerebrosidase 1 deficient Danio rerio mirror key pathological aspects of human Gaucher disease and provide evidence of early microglial activation preceding alpha-synuclein-independent neuronal…
Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutations cause the lysosomal storage disorder Gaucher's disease (GD… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
2015
2015
No Evidence for Substrate Accumulation in Parkinson Brains With GBA Mutations
BACKGROUND To establish whether Parkinson's disease (PD) brains previously described to have decreased glucocerebrosidase… (More)
  • figure 1
  • table 1
Is this relevant?
Highly Cited
2013
Highly Cited
2013
A multicenter study of glucocerebrosidase mutations in dementia with Lewy bodies.
IMPORTANCE While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is… (More)
  • table 2
  • table 3
  • table 4
  • table 5
Is this relevant?
2012
2012
Cell surface associated glycohydrolases in normal and Gaucher disease fibroblasts
Gaucher disease (GD) is the most common lysosomal disorder and is caused by an inherited autosomal recessive deficiency in… (More)
  • figure 1
  • table 2
  • figure 2
  • table 4
  • figure 3
Is this relevant?
2011
2011
Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations.
Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with… (More)
  • table 1
  • figure 1
Is this relevant?
2009
2009
Acid beta-glucosidase 1 counteracts p38delta-dependent induction of interleukin-6: possible role for ceramide as an anti-inflammatory lipid.
Activation of protein kinase C (PKC) by the phorbol ester (phorbol 12-myristate 13-acetate) induces ceramide formation through… (More)
Is this relevant?
2009
2009
Involvement of acid beta-glucosidase 1 in the salvage pathway of ceramide formation.
Activation of protein kinase C (PKC) promotes the salvage pathway of ceramide formation, and acid sphingomyelinase has been… (More)
Is this relevant?