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

Papers overview

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2015
2015
Heterozygous mutations in GBA1 gene, encoding for lysosomal enzyme glucocerebrosidase (GCase), are a major risk factor for… (More)
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2015
2015
Diminished lysosomal function can lead to abnormal cellular accumulation of specific proteins, including α-synuclein… (More)
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2015
2015
Gaucher's disease is caused by defects in acid β-glucosidase 1 (GBA1) and has been also proposed as an inflammatory disease. GBA1… (More)
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2015
2015
Autosomal recessively inherited glucocerebrosidase 1 (GBA1) mutations cause the lysosomal storage disorder Gaucher's disease (GD… (More)
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2015
2015
BACKGROUND To establish whether Parkinson's disease (PD) brains previously described to have decreased glucocerebrosidase… (More)
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Highly Cited
2013
Highly Cited
2013
IMPORTANCE While mutations in glucocerebrosidase (GBA1) are associated with an increased risk for Parkinson disease (PD), it is… (More)
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2012
2012
Gaucher disease (GD) is the most common lysosomal disorder and is caused by an inherited autosomal recessive deficiency in… (More)
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2011
2011
Recent studies show an increased frequency of mutations in the glucocerebrosidase gene (GBA1) in patients with… (More)
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2009
2009
Activation of protein kinase C (PKC) by the phorbol ester (phorbol 12-myristate 13-acetate) induces ceramide formation through… (More)
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2009
2009
Activation of protein kinase C (PKC) promotes the salvage pathway of ceramide formation, and acid sphingomyelinase has been… (More)
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