| Type |
Details |
Score |
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Gene |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
dog, domestic |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
chimpanzee |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
cattle |
|
•
•
•
•
•
|
| Gene |
| Type: |
gene |
| Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators |
| Year: |
2016 |
|
| Title: |
Automatic transfer of experimentally verified manual GO annotation data to orthologs using Ensembl Compara |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2010 |
|
| Title: |
Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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). |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2002 |
|
| Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas |
| Year: |
2010 |
|
| Title: |
Annotation inferences using phylogenetic trees |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Allen Institute for Brain Science |
| Year: |
2004 |
| Journal: |
Allen Institute |
| Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics |
| Year: |
2010 |
| Journal: |
Database Release |
| Title: |
Protein Ontology Association Load. |
|
|
|
|
•
•
•
•
•
|
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
| Year: |
2000 |
| Journal: |
Database Release |
| Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI) |
| Year: |
2010 |
| Journal: |
Database Download |
| Title: |
Consensus CDS project |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
|
|
|
|
•
•
•
•
•
|
| 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 Gene 1.0 ST Array Platform |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Group |
| Year: |
2003 |
| Journal: |
Database Procedure |
| Title: |
Automatic Encodes (AutoE) Reference |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Bairoch A |
| Year: |
1999 |
| Journal: |
Database Release |
| Title: |
SWISS-PROT Annotated protein sequence database |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2005 |
|
| Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Mouse Genome Informatics Scientific Curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology Annotation by the MGI Curatorial Staff |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
GOA curators, MGI curators |
| Year: |
2001 |
|
| Title: |
Gene Ontology annotation based on Enzyme Commission mapping |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
The Gene Ontology Consortium |
| Year: |
2016 |
|
| Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Publication |
| First Author: |
Carninci P |
| Year: |
2005 |
| Journal: |
Science |
| Title: |
The transcriptional landscape of the mammalian genome. |
| Volume: |
309 |
| Issue: |
5740 |
| Pages: |
1559-63 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
|
|
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Allele |
| Name: |
EPM2A interacting protein 1; wild type |
|
|
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus caroli |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus pahari |
|
•
•
•
•
•
|
| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
Mus spretus |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| 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 |
|
•
•
•
•
•
|
| Publication |
| 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 |
|
•
•
•
•
•
|
| Allele |
| Name: |
EPM2A interacting protein 1; gene trap BA0314, Wellcome Trust Sanger Institute |
| Allele Type: |
Gene trapped |
| Attribute String: |
Null/knockout, Reporter |
|
•
•
•
•
•
|
| Allele |
| 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 |
|
•
•
•
•
•
|
| Allele |
| Name: |
transgene insertion 1, Berge A Minassian |
| Allele Type: |
Transgenic |
| Attribute String: |
Dominant negative, Epitope tag, Humanized sequence, Inserted expressed sequence |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Epm2aip1/Epm2aip1 |
| Background: |
involves: 129P2/OlaHsd * C57BL/6 |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Strain |
| Attribute String: |
coisogenic, endonuclease-mediated mutation, mutant strain |
|
•
•
•
•
•
|
| Genotype |
| Symbol: |
Tg(CAG-EPM2A*C266S)1Bmin/? |
| Background: |
involves: 129 * C57BL/6 * SJL |
| Zygosity: |
ot |
| Has Mutant Allele: |
true |
|
•
•
•
•
•
|
| Protein Domain |
| 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 |
| 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 |
| Name: |
NHL repeat containing 1; targeted mutation 1, Velocigene |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout, Reporter |
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| Allele |
| Name: |
NHL repeat containing 1; targeted mutation 1, Berge A Minassian |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
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| Allele |
| Name: |
NHL repeat containing 1; targeted mutation 1.2, Genoway |
| Allele Type: |
Targeted |
| Attribute String: |
Null/knockout |
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| Protein Coding Gene |
| Type: |
protein_coding_gene |
| Organism: |
mouse, laboratory |
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| Transgene |
| Type: |
transgene |
| Organism: |
mouse, laboratory |
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| Genotype |
| Symbol: |
Epm2a/Epm2a |
| Background: |
involves: 129P2/OlaHsd * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| Genotype |
| Symbol: |
Nhlrc1/Nhlrc1 |
| Background: |
involves: C57BL/6J * C57BL/6NTac |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| Genotype |
| Symbol: |
Nhlrc1/Nhlrc1 |
| Background: |
involves: 129S2/SvPas * C57BL/6J |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| Genotype |
| Symbol: |
Nhlrc1/Nhlrc1 |
| Background: |
involves: 129S6/SvEvTac * C57BL/6 * C57BL/6NCr |
| Zygosity: |
hm |
| Has Mutant Allele: |
true |
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| DO Term |
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| Publication |
| 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 |
| 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 |
| 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 |
| Organism: |
Mus musculus/domesticus |
| Length: |
606
 |
| Fragment?: |
false |
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