(Q29347518)

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

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scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

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

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

alternative mRNA splicing, via spliceosome

1 reference

based on heuristic

inferred from title

progressive myoclonus epilepsy

1 reference

based on heuristic

inferred from title

author name string

Deepti Dubey

1

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

Subramaniam Ganesh

2

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

publication date

10 July 2008

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

17

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

19

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

3010-3020

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Advances in the genetics of progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Mutations in NHLRC1 cause progressive myoclonus epilepsy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 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://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

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://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Negative regulation of CD45 by differential homodimerization of the alternatively spliced isoforms

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Dimerization in vivo and inhibition of the nonreceptor form of protein tyrosine phosphatase epsilon

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Identification of a truncated alternative splicing variant of human PPARgamma1 that exhibits dominant negative activity

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Glucocorticoid receptor isoforms generate transcription specificity.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Multiple glucocorticoid receptor isoforms and mechanisms of post-translational modification.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Translational regulatory mechanisms generate N-terminal glucocorticoid receptor isoforms with unique transcriptional target genes.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2FDDN199

21 January 2018

Identifiers

10.1093/HMG/DDN199

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

11 April 2017

ResearchGate publication ID

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