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sphingosyl beta-glucoside

Known as: glucosylsphingosine, glucosyl psychosine, glucosyl sphingosine 
 
National Institutes of Health

Papers overview

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Highly Cited
2017
Highly Cited
2017
Significance Mutations in the glucocerebrosidase gene (GBA) represent the most common genetic risk factor for Parkinson’s disease… Expand
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Highly Cited
2014
Highly Cited
2014
Gaucher's disease (GD), an inherited metabolic disorder caused by mutations in the glucocerebrosidase gene (GBA), is the most… Expand
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Highly Cited
2013
Highly Cited
2013
Mutations of GBA1, the gene encoding glucocerebrosidase, represent a common genetic risk factor for developing the… Expand
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2012
2012
Mutations in GBA1 gene result in defective acid β-glucosidase and the complex phenotype of Gaucher disease (GD) related to the… Expand
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Highly Cited
2011
Highly Cited
2011
Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, leads to prominent glucosylceramide… Expand
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Highly Cited
2010
Highly Cited
2010
Gaucher disease is caused by defective acid β-glucosidase (GCase) function. Saposin C is a lysosomal protein needed for optimal… Expand
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Highly Cited
2005
Highly Cited
2005
Gaucher disease is an inherited metabolic disorder caused by defective activity of the lysosomal enzyme, glucocerebrosidase… Expand
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Highly Cited
2003
Highly Cited
2003
We recently demonstrated that elevation of intracellular glucosylceramide (GlcCer) levels results in increased functional Ca2… Expand
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Highly Cited
2002
Highly Cited
2002
Gaucher disease, the inherited deficiency of lysosomal glucocerebrosidase, presents with a wide spectrum of clinical… Expand
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Highly Cited
1982
Highly Cited
1982
Three major clinical variants of Gaucher disease have been defined: Type I, chronic nonneuronopathic; Type II, acute… Expand
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