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Galactocerebrosidase, human

Known as: Galactosylceramide Beta-Galactosidase, Galactocerebroside Beta-Galactosidase, EC 3.2.1.46 
Galactocerebrosidase (685 aa, ~77 kDa) is encoded by the human GALC gene. This protein is involved in hydrolysis of galactose ester bonds of… 
National Institutes of Health

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4 relations
Enzyme GeneGALACTOSYLCERAMIDASEGALC geneHydrolysis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
Development of a newborn screening tool based on bivariate normal limits: using psychosine and galactocerebrosidase determination on dried blood spots to predict Krabbe disease
Newborn screening for Krabbe disease (KD) originated in New York State in 2006 but has proven to have a high false positive rate… 
2007
2007
Tandem mass spectrometry in the detection of inborn errors of metabolism for newborn screening.
Tandem mass spectrometry has been used for determinations of enzyme activities in biological samples. Activities in rehydrated… 
Review
2005
Review
2005
Implications of galactocerebrosidase and galactosylcerebroside metabolism in cancer cells
Galactosylcerebroside is known to be overexpressed upon the cellular surface of a variety of cancers. In squamous cell carcinomas… 
2001
2001
Quantification of cellular acid sphingomyelinase and galactocerebroside beta-galactosidase activities by electrospray ionization mass spectrometry.
BACKGROUND Diagnosis of Niemann-Pick (A and B) and Krabbe diseases is achieved by measurement of the lysosomal enzymes acid… 
2000
2000
Multiple cranial nerve enhancement in early infantile Krabbe’s disease
Krabbe’s disease or globoid-cell leukodystrophy is an autosomal recessive disorder caused by a mutation of the galactocerebroside… 
1998
1998
Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization.
Highly Cited
1993
Highly Cited
1993
Galactocerebrosidase from human urine: purification and partial characterization.
1986
1986
Optimal assay conditions for enzymatic characterization of homozygous and heterozygous twitcher mouse.
1981
1981
A sensitive assay of galactocerebroside beta-galactosidase by high-performance liquid chromatography using galactosyl-N-dansyl-sphingosine as substrate.
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