(Q33468448)

27 July 2017

title

Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin (English)

1 reference

27 July 2017

main subject

endoplasmic reticulum

0 references

NHL repeat containing 1

1 reference

Santiago Rodriguez de Córdoba

GOA release 2020-03-11

1 reference

4

1 reference

27 July 2017

Pascual Sanz

5

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Santiago Vernia

object named as

Santiago Vernia

1

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author name string

Teresa Rubio

2

1 reference

27 July 2017

Miguel Heredia

3

1 reference

27 July 2017

language of work or name

English

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publication date

16 June 2009

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27 July 2017

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27 July 2017

volume

4

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27 July 2017

issue

6

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27 July 2017

page(s)

e5907

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Creative Commons Attribution 4.0 International

27 July 2017

copyright license

start time

16 June 2009

1 reference

April 2022 Public Data File from Crossref

copyright status

copyrighted

0 references

cites work

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=2692001

Laforin confers cancer resistance to energy deprivation-induced apoptosis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Endoplasmic reticulum stress in disease pathogenesis

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Endoplasmic reticulum stress responses

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Ubiquitin ligases, critical mediators of endoplasmic reticulum-associated degradation

21 June 2018

1 reference

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Ubiquitin receptors and ERAD: a network of pathways to the proteasome

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease

21 June 2018

1 reference

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Advances in lafora progressive myoclonus epilepsy

21 June 2018

1 reference

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The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Signal integration in the endoplasmic reticulum unfolded protein response

21 June 2018

1 reference

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The co-chaperone CHIP is induced in various stresses and confers protection to cells.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

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21 June 2018

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Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Distinct ubiquitin-ligase complexes define convergent pathways for the degradation of ER proteins

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

ERAD: the long road to destruction

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Decreased proteolysis caused by protein aggregates, inclusion bodies, plaques, lipofuscin, ceroid, and 'aggresomes' during oxidative stress, aging, and disease.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Mutations in NHLRC1 cause progressive myoclonus epilepsy

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Endoplasmic reticulum: a primary target in various acute disorders and degenerative diseases of the brain

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Parkin facilitates the elimination of expanded polyglutamine proteins and leads to preservation of proteasome function.

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Functional and genomic analyses reveal an essential coordination between the unfolded protein response and ER-associated degradation

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Biochemical studies on tissues from a patient with lafora disease

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

21 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Hepatic disease as the first manifestation of progressive myoclonus epilepsy of Lafora

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus

31 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2692001

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

31 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19529779

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0005907

1 reference

27 July 2017

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27 July 2017

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