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Search results 301 to 326 out of 326 for Galc

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0.019s

Type

Details

Score

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

•

Protein Domain

IPR035394 | Glyco_hydro_59_dom

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

9434153 | -

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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Publication

7601472 | -

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

IPR001286 | Glyco_hydro_59

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

A0A1Y7VM63

Organism:	Mus musculus/domesticus
Length:	491
Fragment?:	true

•

Protein

Q3TTJ1

Organism:	Mus musculus/domesticus
Length:	491
Fragment?:	true

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Protein

P54818

Organism:	Mus musculus/domesticus
Length:	684
Fragment?:	false

•

Publication

8706126 | J:77226

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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Publication

8917582 | J:36558

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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Publication

10739570 | J:61229

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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Publication

14730700 | J:156066

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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Publication

16288467 | J:156142

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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Publication

9464989 | J:78426

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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Publication

15968630 | J:156151

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

•

Publication

9843152 | J:113183

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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Publication

10635033 | J:60056

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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Publication

7528819 | J:27202

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

•

Publication

9192853 | J:41224

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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Publication

29095858 | J:252811

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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Publication

19217332 | J:147882

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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Publication

32998995 | J:299182

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

37337846 | J:342663

First Author:	Watanabe T
Year:	2023
Journal:	J Neurochem
Title:	Genetic ablation of Saposin-D in Krabbe disease eliminates psychosine accumulation but does not significantly improve demyelination.
Volume:	166
Issue:	4
Pages:	720-746

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Publication

7624375 | -

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

8535779 | -

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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