A PTG variant contributes to a milder phenotype in Lafora disease (Q33954771)

30 July 2017

A PTG variant contributes to a milder phenotype in Lafora disease (English)

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30 July 2017

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Pilar Gómez-Garre

13

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Pascual Sanz

object named as

Pascual Sanz

11

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Roberto Michelucci

object named as

Roberto Michelucci

7

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author name string

Rosa Guerrero

1

1 reference

30 July 2017

Santiago Vernia

2

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30 July 2017

Raúl Sanz

3

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30 July 2017

Irene Abreu-Rodríguez

4

1 reference

30 July 2017

Carmen Almaraz

5

1 reference

30 July 2017

María García-Hoyos

6

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30 July 2017

Carlo Alberto Tassinari

8

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30 July 2017

Patrizia Riguzzi

9

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30 July 2017

Carlo Nobile

10

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30 July 2017

José M Serratosa

12

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30 July 2017

language of work or name

English

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publication date

30 June 2011

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30 July 2017

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30 July 2017

6

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30 July 2017

e21294

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30 July 2017

6

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Creative Commons Attribution 4.0 International

30 July 2017

start time

30 June 2011

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April 2022 Public Data File from Crossref

copyright status

copyrighted

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cites work

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Laforin, the most common protein mutated in Lafora disease, regulates autophagy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complex

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Lafora disease due to EPM2B mutations: a clinical and genetic study.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Mutations in NHLRC1 cause progressive myoclonus epilepsy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Glycogen and its Metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Identification of binding sites on protein targeting to glycogen for enzymes of glycogen metabolism.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Overexpression of protein targeting to glycogen (PTG) in rat hepatocytes causes profound activation of glycogen synthesis independent of normal hormone- and substrate-mediated regulatory mechanisms

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

PTG, a protein phosphatase 1-binding protein with a role in glycogen metabolism

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

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

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Lafora disease (author's transl)

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3127956

Beitrag zur Histopathologie der myoklonischen Epilepsie

5 July 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

Progressive familial myoclonic epilepsy in three families: its clinical features and pathological basis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

Founder Effect with Variable Age at Onset in Arab Families with Lafora Disease and EPM2A Mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions

21 January 2018

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PONE.0021294

Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21738631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Clinical and Genetic Findings in 26 Italian Patients with Lafora Disease

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/21738631

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1371/JOURNAL.PONE.0021294

1 reference

30 July 2017

0 references

1 reference

30 July 2017

1 reference