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Search results 101 to 200 out of 226 for Epm2a

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Type Details Score
Publication
29408991 | J:274444
First Author: Rubio-Villena C
Year: 2018
Journal: Hum Mol Genet
Title: Astrocytes: new players in progressive myoclonus epilepsy of Lafora type.
Volume: 27
Issue: 7
Pages: 1290-1300
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Publication
30135927 | J:242756
 
First Author: Ruchti E
Year: 2016
Journal: IBRO Rep
Title: Protein targeting to glycogen is a master regulator of glycogen synthesis in astrocytes.
Volume: 1
Pages: 46-53
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Publication
21552327 | J:242755
First Author: Turnbull J
Year: 2011
Journal: PLoS Genet
Title: PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease.
Volume: 7
Issue: 4
Pages: e1002037
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Publication
32817315 | J:300607
First Author: Nitschke S
Year: 2020
Journal: J Biol Chem
Title: Sensitive quantification of α-glucans in mouse tissues, cell cultures, and human cerebrospinal fluid.
Volume: 295
Issue: 43
Pages: 14698-14709
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Publication
36674605 | J:344533
 
First Author: Romá-Mateo C
Year: 2023
Journal: Int J Mol Sci
Title: Age-Related microRNA Overexpression in Lafora Disease Male Mice Provides Links between Neuroinflammation and Oxidative Stress.
Volume: 24
Issue: 2
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Publication
19805094 | J:153696
First Author: Zhou P
Year: 2009
Journal: Proc Natl Acad Sci U S A
Title: Targeting lymphotoxin-mediated negative selection to prevent prostate cancer in mice with genetic predisposition.
Volume: 106
Issue: 40
Pages: 17134-9
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Publication
32892347 | J:308348
First Author: Israelian L
Year: 2021
Journal: J Neurochem
Title: Ppp1r3d deficiency preferentially inhibits neuronal and cardiac Lafora body formation in a mouse model of the fatal epilepsy Lafora disease.
Volume: 157
Issue: 6
Pages: 1897-1910
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Publication
23913475 | J:274439
First Author: Pederson BA
Year: 2013
Journal: Ann Neurol
Title: Inhibiting glycogen synthesis prevents Lafora disease in a mouse model.
Volume: 74
Issue: 2
Pages: 297-300
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Publication
34043942 | J:313906
First Author: Sun RC
Year: 2021
Journal: Cell Metab
Title: Brain glycogen serves as a critical glucosamine cache required for protein glycosylation.
Volume: 33
Issue: 7
Pages: 1404-1417.e9
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Publication
36511140 | J:334420
 
First Author: Mitra S
Year: 2023
Journal: Dis Model Mech
Title: Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy.
Volume: 16
Issue: 1
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Publication
27107699 | J:235161
First Author: Jain N
Year: 2016
Journal: Biochem Biophys Res Commun
Title: FoxO3a-mediated autophagy is down-regulated in the laforin deficient mice, an animal model for Lafora progressive myoclonus epilepsy.
Volume: 474
Issue: 2
Pages: 321-327
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Publication
26976331 | J:255653
First Author: Muñoz-Ballester C
Year: 2016
Journal: Biochim Biophys Acta
Title: Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease.
Volume: 1862
Issue: 6
Pages: 1074-83
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Publication
31042462 | J:274435
First Author: Sullivan MA
Year: 2019
Journal: Cell Rep
Title: Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative Diseases.
Volume: 27
Issue: 5
Pages: 1334-1344.e6
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Gene
316021 | Epm2aip1
Type: gene
Organism: rat
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Gene
608901 | EPM2AIP1
Type: gene
Organism: dog, domestic
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Gene
471096 | EPM2AIP1
Type: gene
Organism: chimpanzee
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Gene
540067 | EPM2AIP1
Type: gene
Organism: cattle
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Gene
698229 | EPM2AIP1
Type: gene
Organism: macaque, rhesus
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Publication
20453062 | J:161320
First Author: Aguado C
Year: 2010
Journal: Hum Mol Genet
Title: Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
Volume: 19
Issue: 14
Pages: 2867-76
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Publication
24209604 | J:206743
First Author: Klug F
Year: 2013
Journal: Cancer Cell
Title: Low-dose irradiation programs macrophage differentiation to an iNOS⁺/M1 phenotype that orchestrates effective T cell immunotherapy.
Volume: 24
Issue: 5
Pages: 589-602
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Publication
23851691 | J:205691
First Author: Dervovic DD
Year: 2013
Journal: J Immunol
Title: Cellular and molecular requirements for the selection of in vitro-generated CD8 T cells reveal a role for Notch.
Volume: 191
Issue: 4
Pages: 1704-15
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Publication
17952067 | J:128463
First Author: Vilchez D
Year: 2007
Journal: Nat Neurosci
Title: Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.
Volume: 10
Issue: 11
Pages: 1407-13
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Publication
17908927 | J:125489
First Author: Cheng A
Year: 2007
Journal: Genes Dev
Title: A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease.
Volume: 21
Issue: 19
Pages: 2399-409
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Publication
12782127 | J:91625
First Author: Ianzano L
Year: 2003
Journal: Genomics
Title: Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product.
Volume: 81
Issue: 6
Pages: 579-87
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Publication
16602821 | J:162220
First Author: Magdaleno S
Year: 2006
Journal: PLoS Biol
Title: BGEM: an in situ hybridization database of gene expression in the embryonic and adult mouse nervous system.
Volume: 4
Issue: 4
Pages: e86
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Publication
- | J:342605
       
First Author: GOA curators
Year: 2016
Title: Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
21267068 | J:153498
First Author: Diez-Roux G
Year: 2011
Journal: PLoS Biol
Title: A high-resolution anatomical atlas of the transcriptome in the mouse embryo.
Volume: 9
Issue: 1
Pages: e1000582
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:238766
     
First Author: Shanghai Model Organisms Center
Year: 2017
Journal: MGI Direct Data Submission
Title: Information obtained from the Shanghai Model Organisms Center (SMOC), Shanghai, China
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:144087
     
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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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:155721
     
First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:91388
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:144086
     
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 Gene 1.0 ST Array Platform
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:73065
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2001
Title: Gene Ontology Annotation by the MGI Curatorial Staff
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Publication
- | J:72245
       
First Author: GOA curators, MGI curators
Year: 2001
Title: Gene Ontology annotation based on Enzyme Commission mapping
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Publication
- | J:346132
       
First Author: The Gene Ontology Consortium
Year: 2016
Title: Automatic assignment of GO terms using logical inference, based on on inter-ontology links
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Publication
- | J:148605
     
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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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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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:342587
       
First Author: AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators
Year: 2011
Title: Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity
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Protein Coding Gene
MGI:1925031 | Epm2aip1
Type: protein_coding_gene
Organism: mouse, laboratory
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Publication
24142699 | J:204966
First Author: Turnbull J
Year: 2013
Journal: J Biol Chem
Title: Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistance.
Volume: 288
Issue: 48
Pages: 34627-37
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Allele
Epm2aip1<+> | MGI:3048426
   
Name: EPM2A interacting protein 1; wild type
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Protein Coding Gene
MGP_CAROLIEiJ_G0032756 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0035372 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0035353 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0035284 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0035348 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0035056 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_1925031 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0035870 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0034362 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0035023 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0035182 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0035129 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0035261 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0035169 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0035890 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0034069 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0034483 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0015623 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0033904 | -
Type: protein_coding_gene
Organism: Mus spretus
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GXD Expression
GXD Expression
   
Probe: MGI:1065327
Assay Type: RNA in situ
Annotation Date: 2024-04-19
Strength: Weak
Sex: Not Specified
Emaps: EMAPS:3271122
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:7621752
Age: embryonic day 14.5
Specimen Label: Supplementary table 2
Detected: true
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:527523
Assay Type: RNA in situ
Annotation Date: 2009-01-23
Strength: Ambiguous
Sex: Not Specified
Emaps: EMAPS:1603911
Pattern: Not Specified
Stage: TS11
Assay Id: MGI:3828624
Age: embryonic day 7.5
Note: Expression is weak to non-existent.
Specimen Label: E7.5
Specimen Num: 1
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GXD Expression
GXD Expression
   
Probe: MGI:527523
Assay Type: RNA in situ
Annotation Date: 2009-01-23
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1603913
Pattern: Widespread
Stage: TS13
Assay Id: MGI:3828624
Age: embryonic day 8.5
Specimen Label: E8.5
Detected: true
Specimen Num: 2
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GXD Expression
GXD Expression
   
Probe: MGI:1065327
Assay Type: RNA in situ
Annotation Date: 2024-04-19
Strength: Present
Sex: Not Specified
Emaps: EMAPS:1754722
Pattern: Not Specified
Stage: TS22
Assay Id: MGI:7621752
Age: embryonic day 14.5
Specimen Label: Supplementary table 2
Detected: true
Specimen Num: 1
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Publication
12019207 | -
First Author: Ganesh S
Year: 2002
Journal: Hum Mol Genet
Title: Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
Volume: 11
Issue: 11
Pages: 1263-71
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Allele
Epm2aip1<Gt(BA0314)Wtsi> | MGI:3857785
Name: EPM2A interacting protein 1; gene trap BA0314, Wellcome Trust Sanger Institute
Allele Type: Gene trapped
Attribute String: Null/knockout, Reporter
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Allele
Epm2a<em1Smoc> | MGI:7289529
Name: epilepsy, progressive myoclonic epilepsy, type 2 gene alpha; endonuclease-mediated mutation 1, Shanghai Model Organisms Center
Allele Type: Endonuclease-mediated
Attribute String: Null/knockout
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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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Genotype
Genotype
Symbol: Epm2aip1/Epm2aip1
Background: involves: 129P2/OlaHsd * C57BL/6
Zygosity: hm
Has Mutant Allele: true
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Strain
MGI:6475207 | C57BL/6JSmoc-Epm2a<em1Smoc>/Smoc
Attribute String: coisogenic, endonuclease-mediated mutation, mutant strain
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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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Protein Domain
IPR026630 | EPM2A-int_1
Type: Family
Description: EPM2A-interacting protein 1 interacts with laforin, the product of the EPM2A gene, which is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy [].
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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
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
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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Protein Coding Gene
MGI:2145264 | Nhlrc1
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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Publication
24799671 | -
First Author: Meekins DA
Year: 2014
Journal: Proc Natl Acad Sci U S A
Title: Phosphoglucan-bound structure of starch phosphatase Starch Excess4 reveals the mechanism for C6 specificity.
Volume: 111
Issue: 20
Pages: 7272-7
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Protein Domain
IPR045204 | DSP_laforin-like
Type: Domain
Description: Proteins containing this domain include vertebrate dual specificity protein phosphatase Laforin and plant starch excess4 (SEX4). Laforin (encoded by the EPM2A gene) is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the EPM2A gene cause Lafora disease (LD), a fatal autosomal recessive neurodegenerative disorder characterised by the presence of progressive neurological deterioration, myoclonus, and epilepsy []. Pathologically, LD is characterised by distinctive polyglucosans, which are formations of abnormal glycogen []. Laforin prevents LD by at least two mechanisms: by preventing hyperphosphorylation of glycogen by dephosphorylating it, allowing proper glycogen formation, and by promoting the ubiquitination of proteins involved in glycogen metabolism via its interaction with malin. Laforin contains an N-terminal CBM20 (carbohydrate-binding module, family 20) domain and a C-terminal catalytic dual specificity phosphatase (DSP) domain [].Plant SEX4 (also known as DSP4) regulates starch metabolism by selectively dephosphorylating glucose moieties within starch glucan chains. It contains an N-terminal catalytic DSP domain and a C-terminal Early (E) set domain [].
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Publication
25544560 | -
First Author: Raththagala M
Year: 2015
Journal: Mol Cell
Title: Structural mechanism of laforin function in glycogen dephosphorylation and lafora disease.
Volume: 57
Issue: 2
Pages: 261-72
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Protein
Q8VEH5
Organism: Mus musculus/domesticus
Length: 606  
Fragment?: false
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

Copyright © 2017 by The Jackson Laboratory. All Rights Reserved

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