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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… Expand
National Institutes of Health

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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
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2017
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… Expand
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Review
2016
Review
2016
Parkinson's disease: acid-glucocerebrosidase activity and alpha-synuclein clearance.
The role of mutations in the gene GBA1 encoding the lysosomal hydrolase β-glucocerebrosidase for the development of… Expand
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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… Expand
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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
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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
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2005
2005
Resveratrol Synthase Transgene Expression and Accumulation of Resveratrol Glycoside in Rehmannia glutinosa
Rehmannia glutinosa L. is an important medicinal crop in Asian countries and contains trace amount of resveratrol compounds. To… Expand
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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
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1996
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
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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
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