Skip to search formSkip to main content
You are currently offline. Some features of the site may not work correctly.

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… Expand
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

GBA gene
Hydrolysis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2017
Review
2017
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease
The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies… Expand
  • figure 2
Highly Cited
2015
Highly Cited
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… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
2014
Highly Cited
2014
Reduced glucocerebrosidase is associated with increased α-synuclein in sporadic Parkinson's disease.
Heterozygous mutations in GBA1, the gene encoding lysosomal glucocerebrosidase, are the most frequent known genetic risk factor… Expand
  • figure 1
  • table 2
  • figure 2
  • figure 3
  • figure 4
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… Expand
  • table 1
  • table 2
  • table 3
  • table 4
  • table 5
Highly Cited
2013
Highly Cited
2013
The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease
Heterozygous loss‐of‐function mutations in the acid beta‐glucocerebrosidase (GBA1) gene, responsible for the recessive lysosomal… Expand
Highly Cited
2011
Highly Cited
2011
CNS expression of glucocerebrosidase corrects α-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy
Emerging genetic and clinical evidence suggests a link between Gaucher disease and the synucleinopathies Parkinson disease and… Expand
  • figure 1
  • figure 2
  • figure 4
  • figure 3
  • table 1
Highly Cited
2004
Highly Cited
2004
Confirmation of the molecular classification of diffuse large B-cell lymphoma by immunohistochemistry using a tissue microarray.
Diffuse large B-cell lymphoma (DLBCL) can be divided into prognostically important subgroups with germinal center B-cell-like… Expand
  • table 1
  • figure 2
  • figure 1
  • table 2
  • figure 3
Highly Cited
2003
Highly Cited
2003
Induction of multidrug resistance protein 3 in rat liver is associated with altered vectorial excretion of acetaminophen metabolites.
Treatment with the microsomal enzyme inducer trans-stilbene oxide (TSO) can decrease biliary excretion of acetaminophen… Expand
  • figure 1
  • figure 2
  • table 1
  • figure 3
  • table 2
Highly Cited
1996
Highly Cited
1996
Reversible inhibition of IK, IAHP, Ih and ICa currents by internally applied gluconate in rat hippocampal pyramidal neurones
Abstract Previously, we reported that the spike frequency adaptation and slow afterhyperpolarizations (sAHP) in hippocampal… Expand
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Highly Cited
1995
Highly Cited
1995
Interindividual differences in the concentration of 1-hydroxypyrene-glucuronide in urine and polycyclic aromatic hydrocarbon-DNA adducts in peripheral white blood cells after charbroiled beef…
Biological markers of internal dose and macromolecular dose from PAHs provide a potential means of assessing environmental… Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy, Terms of Service, and Dataset License
ACCEPT & CONTINUE