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 The two genes known to be involved in Lafora disease are EPM2A and NHLRC1 (EPM2B). 21505799 2011
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 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 Biomarker disease BEFREE This study demonstrates that laforin and malin are key regulators of HSF1 and that defects in the HSF1-mediated stress response pathway might underlie some of the pathological symptoms in LD. 21652633 2011
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE It is well documented that autophagy is overloaded or impaired in neurodegenerative conditions, and it is also impaired in some PMEs, the clearest example being EPM2 (Lafora disease). 21482188 2011
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 We established a list of 43 genes coding for proteins related to laforin/malin function and/or glycogen metabolism and tested common polymorphisms for possible associations with phenotypic differences using a collection of Lafora disease families. 21738631 2011
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 GeneticVariation disease BEFREE Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy. 22036712 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 9931343 1999
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 Biomarker disease BEFREE EPM2A is predicted to encode a putative protein-tyrosine phosphatase but its specific role in normal brain function and in the Lafora disease is not known. 10092504 1999
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 GeneticVariation disease BEFREE Lafora disease (LD) is an autosomal recessive neurodegenerative disorder caused by mutation in either the dual specificity phosphatase laforin or ubiquitin ligase malin. 19892702 2010
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Although the significance of the interaction between HIRIP5 and laforin proteins is not yet fully known, because laforin dephosphorylated HIRIP5 in vitro, HIRIP5 promises to be an interesting laforin-binding partner and would contribute to the understanding of the molecular pathology of Lafora disease. 12915448 2003
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 We also report the characterisation of five new microsatellite markers and one SNP in the EPM2A gene and describe the haplotypic associations of alleles at these sites in normal and EPM2A chromosomes. 11175283 2000
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Our results suggest that laforin is involved in translational regulation and that protein misfolding may be one of the molecular bases of the Lafora disease phenotype caused by missense mutations in the EPM2A gene. 11001928 2000
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE Lafora disease (LD) is the inherited progressive myoclonus epilepsy caused by mutations in either EPM2A gene, encoding the protein phosphatase laforin or the NHLRC1 gene, encoding the ubiquitin ligase malin. 21742036 2011
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE Thus, laforin’s proposed role in autophagy suggests a possible link between the proteolytic system and the polyglucosan inclusions in LD. 20818153 2010
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE For the first time, we describe a later onset and slower progression of EPM2A-deficient LD seen in Patient 4 and her three sisters who were doubly heterozygous for R241X and G279C in exon 4. 25246353 2014
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 BEFREE Laforin, the most common protein mutated in Lafora disease, regulates autophagy. 20453062 2010
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 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