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 AlteredExpression disease BEFREE All these results suggest a new role of the laforin/malin complex in the activation of autophagy via regulation of the PI3KC3 complex and explain the defect in autophagy described in Lafora disease. 31758957 2020
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 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
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 Lafora disease (LD) is a fatal neurodegenerative disorder caused mostly by mutations in either of two genes encoding laforin and malin. 29645350 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Accumulation of Laforin and Other Related Proteins in Canine Lafora Disease With EPM2B Repeat Expansion. 29444631 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE A novel EPM2A mutation yields a slow progression form of Lafora disease. 30041081 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Lafora disease (LD), the most devastating adolescence-onset epilepsy, is caused by mutations in the EPM2A or EPM2B genes, which encode the proteins laforin and malin, respectively. 30152044 2018
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Some of these regions are in close proximity to genes encoding essential proteins for neuronal functions and human neurodegenerative disorders such as epm2a (Lafora disease), serpini1 (familial encephalopathy with neuroserpin inclusion bodies) and il1rpl1 (mental retardation, X-linked 21). 30049290 2018
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 Mutations in the laforin (EPM2A) gene on chromosome 6q24 or in the malin gene (NHLRC1) on chromosome 6p22 are responsible of LD phenotype. 28556688 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Mouse models with deletion in the Epm2a or the Epm2b gene show intracellular aggregates of polyglucosans (Lafora bodies) and neurological complications that resemble those observed in patients with LD. 28181916 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 AlteredExpression disease BEFREE Our results suggest that laforin and malin are novel regulators of mitochondrial quality control pathway and that the mitochondrial dysfunction resulting from the increased Drp1 levels could underlie neuropathology in LD. 28063983 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models. 27041370 2017
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease GENOMICS_ENGLAND Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes. 27604308 2016
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 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 The lack of Lafora's bodies in skin specimens and the molecular analysis excluding mutations in Laforin and Malin genes ruled out Lafora disease. 27632409 2016
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 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 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 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 Biomarker disease BEFREE Lafora disease (LD, OMIM 254780, ORPHA501) is a fatal neurodegenerative disorder characterized by the presence of glycogen-like intracellular inclusions called Lafora bodies and caused, in the vast majority of cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin and malin. 24838580 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease UNIPROT In the absence of laforin, water-soluble glycogen becomes insoluble, leading to the neurodegenerative disorder Lafora Disease. 26231210 2015
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease UNIPROT Analyses of LD patient mutations define the mechanism by which subsets of mutations disrupt laforin function. 25544560 2015