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Search results 201 to 222 out of 222 for Gbe1

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Type Details Score
Allele
Gbe1<tm2.1Hoa> | MGI:5767122
Name: 1,4-alpha-glucan branching enzyme 1; targeted mutation 2.1, H Orhan Akman
Allele Type: Targeted
Attribute String: Conditional ready, Hypomorph
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Allele
Gbe1<m1Yty> | MGI:4868492
 
Name: 1,4-alpha-glucan branching enzyme 1; mutation 1, Yu-Ting Yan
Allele Type: Chemically induced (ENU)
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Allele
Gbe1<tm1.1Hoa> | MGI:5293612
Name: 1,4-alpha-glucan branching enzyme 1; targeted mutation 1.1, H Orhan Akman
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Gbe1<tm1Hoa> | MGI:5293611
Name: 1,4-alpha-glucan branching enzyme 1; targeted mutation 1, H Orhan Akman
Allele Type: Targeted
Attribute String: Conditional ready, No functional change
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Publication
8463281 | -
First Author: Thon VJ
Year: 1993
Journal: J Biol Chem
Title: Isolation of human glycogen branching enzyme cDNAs by screening complementation in yeast.
Volume: 268
Issue: 10
Pages: 7509-13
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Publication
26199317 | -
First Author: Froese DS
Year: 2015
Journal: Hum Mol Genet
Title: Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.
Volume: 24
Issue: 20
Pages: 5667-76
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Publication
8613547 | -
First Author: Bao Y
Year: 1996
Journal: J Clin Invest
Title: Hepatic and neuromuscular forms of glycogen storage disease type IV caused by mutations in the same glycogen-branching enzyme gene.
Volume: 97
Issue: 4
Pages: 941-8
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Protein Domain
IPR037439 | Branching_enzy
Type: Family
Description: This entry consists of glycogen branching enzyme GlgB from bacteria and GBE1 from eukaryotes, which are responsible for the transfer of chains of alpha(1,4)-linked glucosyl residues to other similar chains (in new alpha-(1,6) linkages) in the biosynthesis of glycogen []. GlgB is responsible for the degree of alpha(1,6) branch linkages found in polysaccharides []. GBE1 is required for normal glycogen accumulation in animals [, ]. Deficiency in GBE1 results in glycogen storage disease type IV [].
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Genotype
Genotype
Symbol: Gbe1/Gbe1
Background: C3HeB/FeJ-Gbe1
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gbe1/Gbe1
Background: involves: 129S7/SvEvBrd
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gbe1/Gbe1
Background: involves: 129S7/SvEvBrd
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Gbe1/Gbe1
Background: involves: 129S7/SvEvBrd
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:2750 | glycogen storage disease IV
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Publication
7862674 | -
First Author: Guan H
Year: 1995
Journal: Proc Natl Acad Sci U S A
Title: Maize branching enzyme catalyzes synthesis of glycogen-like polysaccharide in glgB-deficient Escherichia coli.
Volume: 92
Issue: 4
Pages: 964-7
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Publication
2959476 | -
First Author: Tolmasky DS
Year: 1987
Journal: Eur J Biochem
Title: The degree of branching in (alpha 1,4)-(alpha 1,6)-linked glucopolysaccharides is dependent on intrinsic properties of the branching enzymes.
Volume: 168
Issue: 2
Pages: 393-7
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Publication
27044864 | J:236187
First Author: Uruno A
Year: 2016
Journal: Mol Cell Biol
Title: Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism.
Volume: 36
Issue: 11
Pages: 1655-72
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Protein
Q8BT78
Organism: Mus musculus/domesticus
Length: 112  
Fragment?: true
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Publication
35084461 | J:334038
First Author: Nitschke S
Year: 2022
Journal: Brain
Title: Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.
Volume: 145
Issue: 7
Pages: 2361-2377
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Protein
Q9D6Y9
Organism: Mus musculus/domesticus
Length: 702  
Fragment?: false
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Protein
F6ZHD8
Organism: Mus musculus/domesticus
Length: 702  
Fragment?: false
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Protein
Q8C7E6
Organism: Mus musculus/domesticus
Length: 660  
Fragment?: false
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Protein
G3UW30
Organism: Mus musculus/domesticus
Length: 660  
Fragment?: false
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