PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease (Q28477920)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

title

PTG depletion removes Lafora bodies and rescues the fatal epilepsy of Lafora disease (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json

Protein phosphatase 1, regulatory subunit 3C

31 January 2020

main subject

1 reference

Epilepsy, progressive myoclonic epilepsy, type 2 gene alpha

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

1 reference

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

Julie Turnbull

1 reference

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31 January 2020

Anna A DePaoli-Roach

1 reference

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31 January 2020

Xiaochu Zhao

1 reference

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31 January 2020

Nela Pencea

1 reference

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31 January 2020

Erica Tiberia

1 reference

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31 January 2020

Mark Piliguian

1 reference

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31 January 2020

Peter J Roach

1 reference

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31 January 2020

Peixiang Wang

1 reference

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31 January 2020

Cameron A Ackerley

1 reference

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31 January 2020

Berge A Minassian

1 reference

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31 January 2020

language of work or name

English

0 references

publication date

28 April 2011

1 reference

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31 January 2020

1 reference

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31 January 2020

volume

1 reference

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31 January 2020

issue

1 reference

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31 January 2020

page(s)

e1002037

1 reference

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Creative Commons Attribution 4.0 International

31 January 2020

start time

28 April 2011

1 reference

April 2022 Public Data File from Crossref

copyrighted

0 references

cites work

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Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation

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

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19 March 2017

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Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin

19 March 2017

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

29 September 2017

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The borderland of epilepsy: clinical and molecular features of phenomena that mimic epileptic seizures

29 September 2017

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29 September 2017

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

29 September 2017

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Expanded repeat in canine epilepsy

29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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29 September 2017

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A distinct form of adult polyglucosan body disease with massive involvement of central and peripheral neuronal processes and astrocytes: a report of four cases and a review of the occurrence of polyglucosan bodies in other conditions such as Lafora'

29 September 2017

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Studies in myoclonus epilepsy (Lafora body form). I. Isolation and preliminary characterization of Lafora bodies in two cases

2 June 2018

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2 June 2018

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28 July 2018

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

21 January 2018

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Exercise capacity of mice genetically lacking muscle glycogen synthase: in mice, muscle glycogen is not essential for exercise

21 January 2018

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Myoclonus, motor deficits, alterations in emotional responses and monoamine metabolism in epsilon-sarcoglycan deficient mice

21 January 2018

1 reference

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

21 January 2018

1 reference

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Crystal structure of an archaeal glycogen synthase: insights into oligomerization and substrate binding of eukaryotic glycogen synthases

21 January 2018

1 reference

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Restoration of muscle functionality by genetic suppression of glycogen synthesis in a murine model of Pompe disease.

21 January 2018

1 reference

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Beitrag zur Histopathologie der myoklonischen Epilepsie

21 January 2018

1 reference

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Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21552327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Corpora-amylacea and the family of polyglucosan diseases

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21552327

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PGEN.1002037

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json

31 January 2020

PubMed publication ID

21552327

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:21552327%20AND%20SRC:MED&resulttype=core&format=json