Type |
Details |
Score |
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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•
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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•
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2009 |
Journal: |
Database Download |
Title: |
Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform |
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Allele |
Name: |
galactosylceramidase; targeted mutation 1.1, Aimee Stablewski |
Allele Type: |
Targeted |
Attribute String: |
Conditional ready |
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•
•
•
•
•
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GXD Expression |
Probe: |
MGI:7714911 |
Assay Type: |
Immunohistochemistry |
Annotation Date: |
2024-10-10 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:3277028 |
Pattern: |
Not Specified |
Stage: |
TS28 |
Assay Id: |
MGI:7736790 |
Age: |
postnatal adult |
|
Note: |
Not colocalize with the Galc astrocyte marker. |
Specimen Label: |
not shown |
Detected: |
true |
Specimen Num: |
15 |
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•
•
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•
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Allele |
Name: |
galactosylceramidase; mutation 2, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
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•
•
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Strain |
Attribute String: |
mutant strain, chemically induced mutation, coisogenic |
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•
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Allele |
Name: |
galactosylceramidase; mutation 3, Bruce Beutler |
Allele Type: |
Chemically induced (ENU) |
Attribute String: |
Not Specified |
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•
•
•
•
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Strain |
Attribute String: |
coisogenic, chemically induced mutation, mutant strain |
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Genotype |
Symbol: |
Galc/Galc |
Background: |
C57BL/6J-Galc |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
•
•
•
•
|
Genotype |
Symbol: |
Galc/Galc |
Background: |
C57BL/6J-Galc |
Zygosity: |
hm |
Has Mutant Allele: |
true |
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•
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Protein Domain |
Type: |
Domain |
Description: |
This entry represents the central domain of the glycosyl hydrolase family 59 members.Glycoside hydrolase family 59 comprises enzymes with only one known activity; galactocerebrosidase ().Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomalrecessive disorder that results from deficiency of galactocerebrosidase(GALC) activity [, , ]. GALC is responsible for the lysosomal catabolism ofcertain galactolipids, including galactosylceramide and psychosine []. |
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Publication |
First Author: |
Sakai N |
Year: |
1998 |
Journal: |
Biochim Biophys Acta |
Title: |
Human galactocerebrosidase gene: promoter analysis of the 5'-flanking region and structural organization. |
Volume: |
1395 |
Issue: |
1 |
Pages: |
62-7 |
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•
•
•
•
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Publication |
First Author: |
Luzi P |
Year: |
1995 |
Journal: |
Genomics |
Title: |
Structure and organization of the human galactocerebrosidase (GALC) gene. |
Volume: |
26 |
Issue: |
2 |
Pages: |
407-9 |
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Protein Domain |
Type: |
Family |
Description: |
O-Glycosyl hydrolases () are a widespread group of enzymes that hydrolyse the glycosidic bond between two or more carbohydrates, or between a carbohydrate and a non-carbohydrate moiety. A classification system for glycosyl hydrolases, based on sequence similarity, has led to the definition of 85 different families [, ]. This classification is available on the CAZy (CArbohydrate-Active EnZymes) website.Glycoside hydrolase family 59 comprises enzymes with only one known activity; galactocerebrosidase ().Globoid cell leukodystrophy (Krabbe disease) is a severe, autosomalrecessive disorder that results from deficiency of galactocerebrosidase(GALC) activity [, , ]. GALC is responsible for the lysosomal catabolism ofcertain galactolipids, including galactosylceramide and psychosine []. |
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
491
 |
Fragment?: |
true |
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•
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Protein |
Organism: |
Mus musculus/domesticus |
Length: |
491
 |
Fragment?: |
true |
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•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
684
 |
Fragment?: |
false |
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•
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Publication |
First Author: |
Coetzee T |
Year: |
1996 |
Journal: |
Cell |
Title: |
Myelination in the absence of galactocerebroside and sulfatide: normal structure with abnormal function and regional instability. |
Volume: |
86 |
Issue: |
2 |
Pages: |
209-19 |
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•
•
•
•
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Publication |
First Author: |
Dupree JL |
Year: |
1999 |
Journal: |
J Neurocytol |
Title: |
Genetic dissection of myelin galactolipid function. |
Volume: |
28 |
Issue: |
4-5 |
Pages: |
271-9 |
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•
•
•
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Publication |
First Author: |
Bosio A |
Year: |
1996 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Functional breakdown of the lipid bilayer of the myelin membrane in central and peripheral nervous system by disrupted galactocerebroside synthesis. |
Volume: |
93 |
Issue: |
23 |
Pages: |
13280-5 |
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•
•
•
•
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Publication |
First Author: |
Dupree JL |
Year: |
1998 |
Journal: |
J Neurosci |
Title: |
Myelin galactolipids are essential for proper node of Ranvier formation in the CNS. |
Volume: |
18 |
Issue: |
5 |
Pages: |
1642-9 |
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•
•
•
•
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Publication |
First Author: |
Coetzee T |
Year: |
1998 |
Journal: |
J Neurosci Res |
Title: |
Demyelination and altered expression of myelin-associated glycoprotein isoforms in the central nervous system of galactolipid-deficient mice. |
Volume: |
54 |
Issue: |
5 |
Pages: |
613-22 |
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•
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Publication |
First Author: |
Zöller I |
Year: |
2005 |
Journal: |
Glia |
Title: |
Oligodendrocyte-specific ceramide galactosyltransferase (CGT) expression phenotypically rescues CGT-deficient mice and demonstrates that CGT activity does not limit brain galactosylceramide level. |
Volume: |
52 |
Issue: |
3 |
Pages: |
190-8 |
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•
•
•
•
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Publication |
First Author: |
Hirahara Y |
Year: |
2004 |
Journal: |
Glia |
Title: |
Sulfatide is a negative regulator of oligodendrocyte differentiation: development in sulfatide-null mice. |
Volume: |
45 |
Issue: |
3 |
Pages: |
269-77 |
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•
•
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•
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Publication |
First Author: |
Marcus J |
Year: |
2006 |
Journal: |
Glia |
Title: |
Sulfatide is essential for the maintenance of CNS myelin and axon structure. |
Volume: |
53 |
Issue: |
4 |
Pages: |
372-81 |
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•
•
•
•
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Publication |
First Author: |
Popko B |
Year: |
1999 |
Journal: |
Adv Exp Med Biol |
Title: |
Genetic analysis of myelin galactolipid function. |
Volume: |
468 |
|
Pages: |
237-44 |
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•
•
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•
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Publication |
First Author: |
Dyer CA |
Year: |
1994 |
Journal: |
J Neurosci Res |
Title: |
Myelin basic protein mediates extracellular signals that regulate microtubule stability in oligodendrocyte membrane sheets. |
Volume: |
39 |
Issue: |
1 |
Pages: |
97-107 |
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•
•
•
•
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Publication |
First Author: |
Luzi P |
Year: |
1997 |
Journal: |
Genomics |
Title: |
Characterization of the rhesus monkey galactocerebrosidase (GALC) cDNA and gene and identification of the mutation causing globoid cell leukodystrophy (Krabbe disease) in this primate. |
Volume: |
42 |
Issue: |
2 |
Pages: |
319-24 |
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•
•
•
•
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Publication |
First Author: |
Misslin C |
Year: |
2017 |
Journal: |
PLoS One |
Title: |
Phospholipase A2 is involved in galactosylsphingosine-induced astrocyte toxicity, neuronal damage and demyelination. |
Volume: |
12 |
Issue: |
11 |
Pages: |
e0187217 |
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•
•
•
•
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Publication |
First Author: |
Strazza M |
Year: |
2009 |
Journal: |
Mol Genet Metab |
Title: |
Significant correction of pathology in brains of twitcher mice following injection of genetically modified mouse neural progenitor cells. |
Volume: |
97 |
Issue: |
1 |
Pages: |
27-34 |
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•
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•
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Publication |
First Author: |
Belleri M |
Year: |
2020 |
Journal: |
Cancer Res |
Title: |
β-Galactosylceramidase Promotes Melanoma Growth via Modulation of Ceramide Metabolism. |
Volume: |
80 |
Issue: |
22 |
Pages: |
5011-5023 |
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•
•
•
•
|
Publication |
First Author: |
Henrissat B |
Year: |
1995 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Conserved catalytic machinery and the prediction of a common fold for several families of glycosyl hydrolases. |
Volume: |
92 |
Issue: |
15 |
Pages: |
7090-4 |
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•
•
•
•
•
|
Publication |
First Author: |
Davies G |
Year: |
1995 |
Journal: |
Structure |
Title: |
Structures and mechanisms of glycosyl hydrolases. |
Volume: |
3 |
Issue: |
9 |
Pages: |
853-9 |
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