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Search results 201 to 226 out of 226 for Epm2a

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0.017s

Type

Details

Score

Publication

30050012 | -

First Author:	García-Gimeno MA
Year:	2018
Journal:	Cells
Title:	Lafora Disease: A Ubiquitination-Related Pathology.
Volume:	7
Issue:	8

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Publication

17337485 | -

First Author:	Mittal S
Year:	2007
Journal:	Hum Mol Genet
Title:	Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.
Volume:	16
Issue:	7
Pages:	753-62

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Protein Domain

IPR042942 | Laforin

Type:

Family

Description:

Laforin (encoded by the EPM2A gene) is a protein phosphatase and one of the two proteins (the other one is malin, a E3-ubiquitin ligase) that is defective in Lafora disease (LD), a progressive form of inherited epilepsy associated with widespread neurodegeneration and the formation of polyglucosan bodies in the neurons []. Laforin and malin form a functional complex, in which laforin could recognize and recruit putative substrates to be ubiquitinated by malin for degradation. The Laforin-malin complex regulates glycogen synthesis through targeting R5/PTG (Protein Targeting to Glycogen) for inactivation, most probably by proteolysis. Moreover, the Laforin-Malin complex is also involved in different pathways, such as intracellular protein degradation, oxidative stress, and the endoplasmic reticulum unfolded protein response []. It contains a carbohydrate binding module (CBM) at the N terminus and a dual specificity phosphatase domain (DSP) at the C terminus. The structure of Laforin has been revealed [].

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Publication

17022935 | J:114495

First Author:	Wang W
Year:	2006
Journal:	Biochem Biophys Res Commun
Title:	Relationship between glycogen accumulation and the laforin dual specificity phosphatase.
Volume:	350
Issue:	3
Pages:	588-92

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Publication

31353261 | J:283669

First Author:	Brewer MK
Year:	2019
Journal:	Cell Metab
Title:	Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion.
Volume:	30
Issue:	4
Pages:	689-705.e6

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Publication

22001906 | J:178114

First Author:	Pei L
Year:	2011
Journal:	Nat Med
Title:	Thyroid hormone receptor repression is linked to type I pneumocyte-associated respiratory distress syndrome.
Volume:	17
Issue:	11
Pages:	1466-72

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Publication

16901901 | -

First Author:	Worby CA
Year:	2006
Journal:	J Biol Chem
Title:	Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.
Volume:	281
Issue:	41
Pages:	30412-8

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Publication

11739371 | -

First Author:	Wang J
Year:	2002
Journal:	J Biol Chem
Title:	A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
Volume:	277
Issue:	4
Pages:	2377-80

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Publication

19682075 | -

First Author:	Christiansen C
Year:	2009
Journal:	FEBS J
Title:	The carbohydrate-binding module family 20--diversity, structure, and function.
Volume:	276
Issue:	18
Pages:	5006-29

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Protein Domain

IPR034831 | CBM20_laforin

Type:

Domain

Description:

Laforin, encoded by the EPM2A gene, is a dual-specificity phosphatase that dephosphorylates complex carbohydrates. Mutations in the gene encoding laforin result in Lafora disease, a fatal autosomal recessive neurodegenerative disorder characterised by the presence of intracellular deposits of insoluble, abnormally branched, glycogen-like polymers, known as Lafora bodies, in neurons, muscle, liver, and other tissues. The molecular basis for the formation of these Lafora bodies is unknown. Laforin is one of the only phosphatases that contains a carbohydrate-binding module [].Laforin is a protein containing a dual-specificity protein phosphatase catalytic domain in the C terminus and a carbohydrate-binding domain in the N terminus [].The CBM20 domain is found in a large number of starch degrading enzymes including alpha-amylase, beta-amylase, glucoamylase, and CGTase (cyclodextrin glucanotransferase). CBM20 is also present in proteins that have a regulatory role in starch metabolism in plants (e.g. alpha-amylase) or glycogen metabolism in mammals (e.g. laforin). CBM20 folds as an antiparallel β-barrel structure with two starch binding sites. These two sites are thought to differ functionally with site 1 acting as the initial starch recognition site and site 2 involved in the specific recognition of appropriate regions of starch [].

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Publication

20538597 | J:165994

First Author:	DePaoli-Roach AA
Year:	2010
Journal:	J Biol Chem
Title:	Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.
Volume:	285
Issue:	33
Pages:	25372-81

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Publication

30152044 | J:266981

First Author:	Augé E
Year:	2018
Journal:	Glia
Title:	Astrocytes and neurons produce distinct types of polyglucosan bodies in Lafora disease.
Volume:	66
Issue:	10
Pages:	2094-2107

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Publication

28181916 | J:274445

First Author:	Sánchez-Elexpuru G
Year:	2017
Journal:	Neuroreport
Title:	4-Phenylbutyric acid and metformin decrease sensitivity to pentylenetetrazol-induced seizures in a malin knockout model of Lafora disease.
Volume:	28
Issue:	5
Pages:	268-271

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Publication

25627694 | J:274457

First Author:	Berthier A
Year:	2016
Journal:	Mol Neurobiol
Title:	Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.
Volume:	53
Issue:	2
Pages:	1296-309

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Publication

18029386 | J:132030

First Author:	Solaz-Fuster MC
Year:	2008
Journal:	Hum Mol Genet
Title:	Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.
Volume:	17
Issue:	5
Pages:	667-78

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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

Q9WUA5

Organism:	Mus musculus/domesticus
Length:	330
Fragment?:	false

•

Publication

16107646 | J:100324

First Author:	Bulfone A
Year:	2005
Journal:	J Neurosci
Title:	Telencephalic embryonic subtractive sequences: a unique collection of neurodevelopmental genes.
Volume:	25
Issue:	33
Pages:	7586-600

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Publication

18973680 | J:141291

First Author:	Tamplin OJ
Year:	2008
Journal:	BMC Genomics
Title:	Microarray analysis of Foxa2 mutant mouse embryos reveals novel gene expression and inductive roles for the gastrula organizer and its derivatives.
Volume:	9

Pages:	511

•

Publication

12693553 | J:83413

First Author:	Okazaki N
Year:	2003
Journal:	DNA Res
Title:	Prediction of the coding sequences of mouse homologues of KIAA gene: II. The complete nucleotide sequences of 400 mouse KIAA-homologous cDNAs identified by screening of terminal sequences of cDNA clones randomly sampled from size-fractionated libraries.
Volume:	10
Issue:	1
Pages:	35-48

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Publication

- | J:80001

First Author:	Mouse Genome Informatics Scientific Curators
Year:	2002

Title:	FANTOM2 Data Curation in Mouse Genome Informatics

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Publication

34321999 | J:313619

First Author:	Bedogni F
Year:	2021
Journal:	Front Mol Neurosci
Title:	Cell-Type-Specific Gene Expression in Developing Mouse Neocortex: Intermediate Progenitors Implicated in Axon Development.
Volume:	14

Pages:	686034

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Publication

12466851 | J:80000

First Author:	Okazaki Y
Year:	2002
Journal:	Nature
Title:	Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume:	420
Issue:	6915
Pages:	563-73

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Publication

11217851 | J:65060

First Author:	Kawai J
Year:	2001
Journal:	Nature
Title:	Functional annotation of a full-length mouse cDNA collection.
Volume:	409
Issue:	6821
Pages:	685-90

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Publication

- | J:23000

First Author:	MGD Nomenclature Committee
Year:	1995

Title:	Nomenclature Committee Use

•

Publication

- | J:57747

First Author:	MGI Genome Annotation Group and UniGene Staff
Year:	2015
Journal:	Database Download
Title:	MGI-UniGene Interconnection Effort

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