(Q37239891)

English

Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress

scientific article published on 29 April 2009

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scholarly article

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Europe PubMed Central

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27 January 2020

Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress (English)

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19403557%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

apoptotic process

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5

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27 January 2020

author name string

Yan Liu

1

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27 January 2020

Yin Wang

2

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27 January 2020

Cindy Wu

3

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27 January 2020

Yang Liu

4

1 reference

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27 January 2020

publication date

29 April 2009

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27 January 2020

Human Molecular Genetics

1 reference

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27 January 2020

18

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27 January 2020

14

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27 January 2020

2622-2631

1 reference

Europe PubMed Central

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27 January 2020

Cell death and endoplasmic reticulum stress: disease relevance and therapeutic opportunities

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Laforin negatively regulates cell cycle progression through glycogen synthase kinase 3beta-dependent mechanisms.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Laforin confers cancer resistance to energy deprivation-induced apoptosis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Chemical chaperones reduce ER stress and restore glucose homeostasis in a mouse model of type 2 diabetes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Role of ubiquitin-mediated proteolysis in the pathogenesis of neurodegenerative disorders.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Progressive myoclonus epilepsy with polyglucosan bodies: Lafora disease.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Advances in the genetics of progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Lafora's disease: towards a clinical, pathologic, and molecular synthesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Cellular defenses against unfolded proteins: a cell biologist thinks about neurodegenerative diseases

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

6 September 2017

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

14 September 2017

Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

14 September 2017

Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

14 September 2017

Abnormal metabolism of glycogen phosphate as a cause for Lafora disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

26 June 2018

Myoclonic epilepsy with lafora bodies. Some ultrastructural, histochemical, and biochemical aspects.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

26 June 2018

Studies in myoclonus epilepsy (Lafora body form). II. Polyglucosans in the systemic deposits of myoclonus epilepsy and in corpora amylacea

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

26 June 2018

The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

3 September 2018

Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

3 September 2018

4-Phenylbutyrate restores the functionality of a misfolded mutant low-density lipoprotein receptor.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

3 September 2018

Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

3 September 2018

Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2701334

3 September 2018

Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Corpora-amylacea and the family of polyglucosan diseases

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Phosphorylation of the alpha-subunit of the eukaryotic initiation factor-2 (eIF2alpha) reduces protein synthesis and enhances apoptosis in response to proteasome inhibition

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

[Lafora's disease (EPM2)]

1 reference

https://pubmed.ncbi.nlm.nih.gov/19403557

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1093/HMG/DDP196

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19403557%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19403557%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

1 reference

Europe PubMed Central

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19403557%20AND%20SRC:MED&resulttype=core&format=json

27 January 2020

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