Keyword

EPM2A

Description: A human protein-coding gene associated with Lafora disease and involved in regulating glycogen metabolism.

Primary topic: Glycogen Storage Diseases and Myoclonus (85%)

Wikidata ID: wiki/Q18032680

OpenAlex ID: keywords/epm2a

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

1998 · Berge A. Minassian, Jeffrey R. Lee, et al. · Nature Genetics · 488

Mutations in NHLRC1 cause progressive myoclonus epilepsy

2003 · Elayne M Chan, Edwin J Young, et al. · Nature Genetics · 327

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

2002 · S. Ganesh · Human Molecular Genetics · 236

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

2007 · Vincent S. Tagliabracci, Julie Turnbull, et al. · Proceedings of the National Academy of Sciences · 202

Abnormal Metabolism of Glycogen Phosphate as a Cause for Lafora Disease

2008 · Vincent S. Tagliabracci, Jean Marie Girard, et al. · Journal of Biological Chemistry · 171

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Lafora disease — from pathogenesis to treatment strategies

2018 · Felix Nitschke, Saija J. Ahonen, et al. · Nature Reviews Neurology · 167

A Unique Carbohydrate Binding Domain Targets the Lafora Disease Phosphatase to Glycogen

2002 · Jianyong Wang, Jeanne A. Stuckey, et al. · Journal of Biological Chemistry · 167

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Lafora disease

2016 · Julie Turnbull, Erica Tiberia, et al. · Epileptic Disorders · 156

Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy

2011 · Olga Criado, Carmen Aguado, et al. · Human Molecular Genetics · 148

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

2007 · Maria Carmen Solaz-Fuster, José Vicente Gimeno-Alcañiz, et al. · Human Molecular Genetics · 145

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

2005 · Subramaniam Ganesh, Rajat Puri, et al. · Journal of Human Genetics · 137

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

2000 · B.A. Minassian, L. Ianzano, et al. · Neurology · 118

Lafora progressive myoclonus epilepsy: A meta-analysis of reported mutations in the first decade following the discovery of theEPM2AandNHLRC1genes

2009 · Shweta Singh, Subramaniam Ganesh · Human Mutation · 114

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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

2003 · M. E. Fernandez-Sanchez · Human Molecular Genetics · 112

Burden Analysis of Rare Microdeletions Suggests a Strong Impact of Neurodevelopmental Genes in Genetic Generalised Epilepsies

2015 · Dennis Lal, Ann-Kathrin Ruppert, et al. · PLoS Genetics · 99

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Targeting Pathogenic Lafora Bodies in Lafora Disease Using an Antibody-Enzyme Fusion

2019 · M. Kathryn Brewer, Annette Uittenbogaard, et al. · Cell Metabolism · 90

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Early-onset Lafora body disease

2012 · Julie Turnbull, Jean-Marie Girard, et al. · Brain · 90

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Progressive myoclonus epilepsy with polyglucosans (Lafora disease)

2004 · E. M. Chan, S. Omer, et al. · Neurology · 90

Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22

2003 · E M Chan, D E Bulman, et al. · Journal of Medical Genetics · 90

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

2002 · S. Ganesh · Human Molecular Genetics · 87

Polyglucosan storage myopathies

2015 · Carola Hedberg-Oldfors, Anders Oldfors · Molecular Aspects of Medicine · 85

Increased Endoplasmic Reticulum Stress and Decreased Proteasomal Function in Lafora Disease Models Lacking the Phosphatase Laforin

2009 · Santiago Vernia, Teresa Rubio, et al. · PLoS ONE · 76

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

2003 · Subramaniam Ganesh, Naomi Tsurutani, et al. · Biochemical and Biophysical Research Communications · 70

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

2010 · Sudheendra N.R. Rao, Ranjan Maity, et al. · Human Molecular Genetics · 69

Pathogenesis of Lafora Disease: Transition of Soluble Glycogen to Insoluble Polyglucosan

2017 · Mitchell Sullivan, Silvia Nitschke, et al. · International Journal of Molecular Sciences · 64

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Works count: 279

Citation count: 6,416