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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… 
National Institutes of Health

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Broader (1)

GBA gene
Hydrolysis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2020
Highly Cited
2020
Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations
Key Points Question Does ambroxol cross the blood-brain barrier, and what are the biochemical changes associated with ambroxol… 
Review
2017
Review
2017
The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease
Highly Cited
2017
Highly Cited
2017
Epigenetic modulation of inflammation and synaptic plasticity promotes resilience against stress in mice
Major depressive disorder is associated with abnormalities in the brain and the immune system. Chronic stress in animals showed… 
Highly Cited
2016
Highly Cited
2016
A Drosophila Model of Neuronopathic Gaucher Disease Demonstrates Lysosomal-Autophagic Defects and Altered mTOR Signalling and Is Functionally Rescued by Rapamycin
Glucocerebrosidase (GBA1) mutations are associated with Gaucher disease (GD), an autosomal recessive disorder caused by… 
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… 
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… 
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… 
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… 
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… 
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… 
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