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Search results 101 to 123 out of 123 for Nhlrc1

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Type Details Score
UniProt Feature
UniProt Feature
Begin: 1
Description: E3 ubiquitin-protein ligase NHLRC1
Type: chain
End: 401
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Publication
19036738 | -
First Author: Garyali P
Year: 2009
Journal: Hum Mol Genet
Title: The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.
Volume: 18
Issue: 4
Pages: 688-700
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Allele
Nhlrc1<em1Smoc> | MGI:7291311
Name: NHL repeat containing 1; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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Strain
MGI:6475881 | C57BL/6-Nhlrc1<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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Gene
7957 | EPM2A
Type: gene
Organism: human
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Allele
Nhlrc1<tm1.2Geno> | MGI:5312925
Name: NHL repeat containing 1; targeted mutation 1.2, Genoway
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Nhlrc1<tm1Bmin> | MGI:5312923
Name: NHL repeat containing 1; targeted mutation 1, Berge A Minassian
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Epm2a<tm1Kzy> | MGI:2182627
Name: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; targeted mutation 1, Kazuhiro Yamakawa
Allele Type: Targeted
Attribute String: Null/knockout
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Allele
Nhlrc1<tm1(KOMP)Vlcg> | MGI:3808349
Name: NHL repeat containing 1; targeted mutation 1, Velocigene
Allele Type: Targeted
Attribute String: Null/knockout, Reporter
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Allele
Tg(CAG-EPM2A*C266S)1Bmin | MGI:6459753
Name: transgene insertion 1, Berge A Minassian
Allele Type: Transgenic
Attribute String: Dominant negative, Epitope tag, Humanized sequence, Inserted expressed sequence
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Protein Coding Gene
MGI:1341085 | Epm2a
Type: protein_coding_gene
Organism: mouse, laboratory
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Transgene
MGI:6459752 | Tg(CAG-EPM2A*C266S)1Bmin
Type: transgene
Organism: mouse, laboratory
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Genotype
Genotype
Symbol: Epm2a/Epm2a
Background: involves: 129P2/OlaHsd * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Nhlrc1/Nhlrc1
Background: involves: C57BL/6J * C57BL/6NTac
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Nhlrc1/Nhlrc1
Background: involves: 129S2/SvPas * C57BL/6J
Zygosity: hm
Has Mutant Allele: true
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Genotype
Genotype
Symbol: Nhlrc1/Nhlrc1
Background: involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr
Zygosity: hm
Has Mutant Allele: true
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DO Term
DOID:3534 | Lafora disease
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Genotype
Genotype
Symbol: Tg(CAG-EPM2A*C266S)1Bmin/?
Background: involves: 129 * C57BL/6 * SJL
Zygosity: ot
Has Mutant Allele: true
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Publication
24068615 | J:274449
First Author: Liu Y
Year: 2014
Journal: Mol Neurobiol
Title: Laforin-malin complex degrades polyglucosan bodies in concert with glycogen debranching enzyme and brain isoform glycogen phosphorylase.
Volume: 49
Issue: 2
Pages: 645-57
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Publication
28973665 | J:252721
First Author: Rai A
Year: 2017
Journal: Hum Mol Genet
Title: Suppression of leptin signaling reduces polyglucosan inclusions and seizure susceptibility in a mouse model for Lafora disease.
Volume: 26
Issue: 24
Pages: 4778-4785
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Publication
16084644 | J:102621
First Author: Ganesh S
Year: 2005
Journal: Neurosci Lett
Title: Transcriptional profiling of a mouse model for Lafora disease reveals dysregulation of genes involved in the expression and modification of proteins.
Volume: 387
Issue: 2
Pages: 62-7
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Publication
24472629 | J:274448
 
First Author: Ortolano S
Year: 2014
Journal: Mol Brain
Title: Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.
Volume: 7
Pages: 7
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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