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 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 GeneticVariation disease BEFREE The two genes known to be associated with LD are EPM2A and NHLRC1. 19267391 2009
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE The majority of the Lafora's disease (LD) is caused by defect in the EPM2A gene, including missense and nonsense mutations and deletions. 19403557 2009
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Laforin, a protein phosphatase, and malin, an E3 ubiquitin ligase, are two of the proteins that are defective in LD. 19036738 2009
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 GeneticVariation disease LHGDN 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 Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy. 18617530 2008
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease UNIPROT 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 Many example illustrate the lack of impact of genetic information on the treatment outcome: we do not treat Dravet syndrome more successfully since SCN1A testing became available; we do not treat Lafora disease more successfully since testing for laforin and malin became available; we do not need to know the genetic nature of Unverricht-Lundborg disease or test for the cystatin B mutation in order to select or avoid certain drugs; we do not treat Rett syndrome more successfully since MECP2 testing became available; we do not treat JME more successfully since we know its genetic origin; we do not treat autosomal dominant nocturnal frontal lobe epilepsy more successfully since we know its genetic origin and can test for its mutation. 19087113 2008
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 AlteredExpression disease LHGDN Laforin, a protein phosphatase, and malin, an ubiquitin ligase, are two of the proteins that are known to be defective in LD. 17337485 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE A curative therapy for human Lafora disease with laforin replacement therapy using neutral pegylated immunoliposomes is being investigated. 17764634 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Lafora disease (LD; progressive myoclonus epilepsy type 2; EPM2) is an autosomal recessive disorder caused by mutations in the EPM2A and EPM2B genes. 17452581 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Laforin, a protein phosphatase, and malin, an ubiquitin ligase, are two of the proteins that are known to be defective in LD. 17337485 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease LHGDN Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. 17509003 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Founder effect with variable age at onset in Arab families with Lafora disease and EPM2A mutation. 17509003 2007
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease LHGDN Our results demonstrate a critical role of dimerization in Laforin function and suggest an important new dimension in protein phosphatase function and in molecular pathogenesis of Lafora's disease. 16971387 2006
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 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 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 Our results demonstrate that laforin is a physiologic substrate of malin, and we propose possible models to explain how recessive mutations in either malin or laforin result in LD. 15930137 2005
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Two genes causing Lafora disease (LD), EPM2A on chromosome 6q24 and NHLRC1 (EPM2B) on chromosome 6p22.3 have been identified, and our recent results indicate there is at least one other gene causing the disease. 16134145 2005
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 UNIPROT A novel exon 1 mutation in a patient with atypical lafora progressive myoclonus epilepsy seen as childhood-onset cognitive deficit. 15009235 2004
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease GENOMICS_ENGLAND Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy. 14722920 2004
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease UNIPROT We also tested in vitro the effects of five LD missense mutations on laforin's affinity to Lafora body. 14706656 2004