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 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 We have established a protocol for purifying recombinant Gg-laforin in sufficient quantity for crystallographic and other biophysical analyses, in order to better understand the function of laforin and define the molecular mechanisms of Lafora disease. 24690255 2014
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 The genes EPM2A and EPM2B are commonly involved in 90 % of LD cases. 23904258 2013
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 GermlineCausalMutation disease ORPHANET We conclude that malin functions to regulate laforin and that malin deficiency at least in part causes LB and LD through increased laforin binding to glycogen. 22669944 2012
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 AlteredExpression disease BEFREE Here, we present data demonstrating that in the cells expressing low levels of laforin protein, overexpressed malin and its Lafora disease-causing missense mutants are stably polyubiquitinated. 22578008 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GermlineCausalMutation disease ORPHANET 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 We conclude that malin functions to regulate laforin and that malin deficiency at least in part causes LB and LD through increased laforin binding to glycogen. 22669944 2012
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease BEFREE In addition, recent results obtained from both cell culture and LD mouse models have highlighted a role of the laforin-malin complex in the regulation of endoplasmic reticulum-stress and protein clearance pathways. 22815132 2012
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 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 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 Biomarker disease GENOMICS_ENGLAND Excess of de novo deleterious mutations in genes associated with glutamatergic systems in nonsyndromic intellectual disability. 21376300 2011
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 Biomarker disease MGD These results define laforin as a new regulator of insulin sensitivity, which provides novel insights into LD pathogenesis and identifies this phosphatase as a potential novel component of the insulin signaling cascade. 21493628 2011
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 Our results emphasize the relevance of the laforin-malin complex in the control of glycogen metabolism and highlight altered glycogen accumulation as a key contributor to neurodegeneration in LD. 21882344 2011
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 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 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 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 With this protocol, we were able for the first time, to produce and purify laforin without fusion tags in the amounts traditionally needed for the crystallographic structural studies paving the way to the understanding of the molecular mechanisms of laforin activity and to the development of novel therapies for Lafora disease. 20152902 2010
CUI: C0751783
Disease: Lafora Disease
Lafora Disease 		1.000 GeneticVariation disease BEFREE More than 50 percent of LD is caused by mutations in EPM2A that encodes laforin. 20818165 2010