EPM2A, EPM2A glucan phosphatase, laforin, 7957

N. diseases: 87; N. variants: 20
Disease: Lafora Disease ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation. 14532330 2003
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE We previously discovered that mutations in EPM2A cause Lafora disease. 12958597 2003
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE A few sporadic cases with typical LD phenotype have been reported from Japan; however, our earlier study failed to find EPM2A mutations in four Japanese families with LD. 16021330 2005
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE The identification of mutations in exon 1 of EPM2A establishes its role in the pathogenesis of Lafora's disease. 10932264 2000
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 AlteredExpression disease BEFREE Taken together, our study strengthens the notion that laforin and malin are pro-survival factors, and that the activation of Hipk2-p53 cell death pathway might underlie neurodegeneration in LD. 26102034 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE We described several novel mutations of EPM2A and NHLRC1 and brought additional data to the genetic epidemiology of LD. 20738377 2010
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Here we related mutations in EPM2A with phenotypes of 22 patients (14 families) and identified two subsyndromes: (i) classical LD with adolescent-onset stimulus-sensitive grand mal, absence and myoclonic seizures followed by dementia and neurologic deterioration, and associated mainly with mutations in exon 4 (P = 0.0007); (ii) atypical LD with childhood-onset dyslexia and learning disorder followed by epilepsy and neurologic deterioration, and associated mainly with mutations in exon 1 (P = 0.0015). 12019207 2002
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 AlteredExpression disease BEFREE Our results that laforin and malin regulate each other's stability and activity offers a novel and attractive model to explain the molecular basis of locus heterogeneity observed in LD. 26648032 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE We find that: (i) in laforin-deficient mice, phosphatase-inactive laforin corrects glycogen chain lengths, and not hyperphosphorylation, which leads to correction of glycogen amounts and prevention of LBs; (ii) in malin-deficient mice, phosphatase-inactive laforin confers no correction; (iii) general impairment of autophagy is not necessary in LD We conclude that laforin's principle function is to control glycogen chain lengths, in a malin-dependent fashion, and that loss of this control underlies LD. 28536304 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE We describe here a systematic analysis of the EPM2A and the NHLRC1 gene sequences in 20 LD families from the Indian population. 18311786 2008
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material. 15102711 2004
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE The lack of mutations in EPM2A and EPM2B in two families could be because of the presence of mutations in noncoding, nontested regions or the existence of an additional gene associated with Lafora disease. 15781812 2005
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Mutations in the gene coding for laforin are responsible for the development of Lafora disease, a progressive fatal myoclonus epilepsy with early onset, characterized by the intracellular deposition of abnormally branched, hyperphosphorylated insoluble glycogen-like polymers, called Lafora bodies. 26578817 2016
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Correction to: Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease. 30207324 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families. 22047982 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease. 17010495 2006
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Lafora disease (LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two. 27702709 2016
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE We report two sisters affected from bioptically diagnosed LD but without evidence of EPM2A mutation. 14643920 2003
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Lafora disease (LD) is a fatal childhood epilepsy caused by recessive mutations in either the EPM2A or EPM2B gene. 31353261 2019
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Lafora disease (LD; OMIM 254780, ORPHA501) is a devastating neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies and caused, in most cases, by mutations in either the EPM2A or the EPM2B gene, encoding respectively laforin, a phosphatase with dual specificity that is involved in the dephosphorylation of glycogen, and malin, an E3-ubiquitin ligase involved in the polyubiquitination of proteins related to glycogen metabolism. 25680286 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin. 19529779 2009
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Lafora disease (LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phosphatase laforin or ubiquitin ligase malin. 23408434 2013
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy. 12560877 2003
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE We report 2 genetic mutations and clinical courses of Lafora disease in 3 adolescents with homozygote NHLRC1 mutation and novel homozygous EPM2A mutation. 25015673 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Twelve patients with genetically confirmed LD (6 EPM2A, 6 NHLRC1) at middle/late stages of disease were treated with add-on metformin for a mean period of 18 months (range: 6-36). 31227012 2019