EPM2A

Summary

Gene Symbol: EPM2A
Description: epilepsy, progressive myoclonus type 2A, Lafora disease (laforin)
Alias: EPM2, MELF, LAFPTPase, epilepsy, progressive myoclonus type 2, Lafora disease (laforin), lafora PTPase, laforin
Species: human

Top Publications

  1. ncbi Analysis of the subcritical carbon dioxide-water interface
    Hui Zhang
    Department of Chemistry, The Ohio State University, Columbus, Ohio 43210, USA
    J Phys Chem A 115:6285-96. 2011
  2. pmc Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin
    Santiago Vernia
    Instituto de Biomedicina de Valencia, CSIC and CIBER de Enfermedades Raras, Valencia, Spain
    PLoS ONE 4:e5907. 2009
  3. pmc Deciphering the role of malin in the lafora progressive myoclonus epilepsy
    Carlos Romá-Mateo
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Valencia, Spain
    IUBMB Life 64:801-8. 2012
  4. doi Malin and laforin are essential components of a protein complex that protects cells from thermal stress
    Sonali Sengupta
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Cell Sci 124:2277-86. 2011
  5. pmc Laforin, the most common protein mutated in Lafora disease, regulates autophagy
    Carmen Aguado
    Laboratory of Cellular Biology, Centro de Investigación Príncipe Felipe and CIBERER, Avda Autopista del Saler 16, 46012 Valencia, Spain
    Hum Mol Genet 19:2867-76. 2010
  6. pmc Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase
    Carlos Romá-Mateo
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Jaime Roig 11, 46010 Valencia, Spain
    Biochem J 439:265-75. 2011
  7. doi Are there errors in glycogen biosynthesis and is laforin a repair enzyme?
    Peter J Roach
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indiana, USA
    FEBS Lett 585:3216-8. 2011
  8. pmc Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity
    Vikas V Dukhande
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, College of Medicine, University of Kentucky, Lexington, Kentucky, United States of America
    PLoS ONE 6:e24040. 2011
  9. pmc A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease
    Alan Cheng
    Department of Internal Medicine, Life Sciences Institute, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
    Genes Dev 21:2399-409. 2007
  10. pmc Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress
    Yan Liu
    Division of Immunotherapy, Section of General Surgery, Department of Surgery, University of Michigan, Ann Arbor, MI 48109, USA
    Hum Mol Genet 18:2622-31. 2009

Scientific Experts

Detail Information

Publications128 found, 100 shown here

  1. ncbi Analysis of the subcritical carbon dioxide-water interface
    Hui Zhang
    Department of Chemistry, The Ohio State University, Columbus, Ohio 43210, USA
    J Phys Chem A 115:6285-96. 2011
    ..K from the low pressure limit to near-critical pressures in molecular dynamics simulations using the SPC water and EPM2 carbon dioxide models...
  2. pmc Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin
    Santiago Vernia
    Instituto de Biomedicina de Valencia, CSIC and CIBER de Enfermedades Raras, Valencia, Spain
    PLoS ONE 4:e5907. 2009
    ..disorder caused by loss-of-function mutations in either the EPM2A gene, encoding the dual specificity phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin...
  3. pmc Deciphering the role of malin in the lafora progressive myoclonus epilepsy
    Carlos Romá-Mateo
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Valencia, Spain
    IUBMB Life 64:801-8. 2012
    ..LD is caused by mutations in the gene encoding the E3 ubiquitin ligase malin or the glucan phosphatase laforin. Although LD was first described in 1911, its symptoms are still lacking a consistent molecular explanation and, ..
  4. doi Malin and laforin are essential components of a protein complex that protects cells from thermal stress
    Sonali Sengupta
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Cell Sci 124:2277-86. 2011
    ..In the present study, we investigated the role of the phosphatase laforin and the ubiquitin ligase malin in the HSF1-mediated heat-shock response...
  5. pmc Laforin, the most common protein mutated in Lafora disease, regulates autophagy
    Carmen Aguado
    Laboratory of Cellular Biology, Centro de Investigación Príncipe Felipe and CIBERER, Avda Autopista del Saler 16, 46012 Valencia, Spain
    Hum Mol Genet 19:2867-76. 2010
    ..Here we describe that the major genetic lesion that causes LD, loss-of-function of the protein laforin, impairs autophagy...
  6. pmc Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase
    Carlos Romá-Mateo
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Jaime Roig 11, 46010 Valencia, Spain
    Biochem J 439:265-75. 2011
    ..disorder caused by loss-of-function mutations in either the EPM2A gene, encoding the dual-specificity phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin...
  7. doi Are there errors in glycogen biosynthesis and is laforin a repair enzyme?
    Peter J Roach
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indiana, USA
    FEBS Lett 585:3216-8. 2011
    ..The phosphate can be removed by the laforin phosphatase, whose mutation causes a fatal myoclonus epilepsy called Lafora disease...
  8. pmc Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity
    Vikas V Dukhande
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, College of Medicine, University of Kentucky, Lexington, Kentucky, United States of America
    PLoS ONE 6:e24040. 2011
    ..LD is caused by mutations in either the gene encoding laforin or malin...
  9. pmc A role for AGL ubiquitination in the glycogen storage disorders of Lafora and Cori's disease
    Alan Cheng
    Department of Internal Medicine, Life Sciences Institute, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
    Genes Dev 21:2399-409. 2007
    ..Taken together, these results indicate that binding to glycogen crucially regulates the stability of AGL and, further, that its ubiquitination may play an important role in the pathophysiology of both Lafora and Cori's disease...
  10. pmc Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress
    Yan Liu
    Division of Immunotherapy, Section of General Surgery, Department of Surgery, University of Michigan, Ann Arbor, MI 48109, USA
    Hum Mol Genet 18:2622-31. 2009
    ..reduced the ER stress and dulled the sensitivity of mutant neuronal cells to apoptosis induced by thapsigargin and the mutant laforin proteins. The increased sensitivity to ER stress-induced apoptosis may contribute to LD pathogenesis.
  11. pmc Malin decreases glycogen accumulation by promoting the degradation of protein targeting to glycogen (PTG)
    Carolyn A Worby
    Department of Pharmacology, University of California at San Diego, La Jolla, California 92093 0721, USA
    J Biol Chem 283:4069-76. 2008
    ..LD is caused by mutations in either the E3 ubiquitin ligase malin or the dual specificity phosphatase laforin. A hallmark of LD is the accumulation of insoluble glycogen in the cytoplasm of cells from most tissues...
  12. ncbi Novel mutations in EPM2A and NHLRC1 widen the spectrum of Lafora disease
    Gaetan Lesca
    Service de Genetique, hospices civils de Lyon et université Claude Bernard Lyon I, Lyon, France
    Epilepsia 51:1691-8. 2010
    ..myoclonus epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1...
  13. pmc The phosphatase laforin crosses evolutionary boundaries and links carbohydrate metabolism to neuronal disease
    Matthew S Gentry
    Department of Pharmacology, University of California, San Diego, La Jolla, CA 92093, USA
    J Cell Biol 178:477-88. 2007
    ..LD is caused by mutations in the gene encoding the phosphatase laforin, which reportedly exists solely in vertebrates...
  14. ncbi Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment
    Shuchi Mittal
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
    Hum Mol Genet 16:753-62. 2007
    ..b>Laforin, a protein phosphatase, and malin, an ubiquitin ligase, are two of the proteins that are known to be defective in ..
  15. ncbi The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies
    Subramaniam Ganesh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Biochem Biophys Res Commun 313:1101-9. 2004
    ..The LD gene, EPM2A, encodes a 331 amino acid long protein named laforin that contains an N-terminal carbohydrate-binding domain (CBD) and a C-terminal dual-specificity phosphatase ..
  16. ncbi Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Japan
    Hum Mol Genet 11:1263-71. 2002
    Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause an autosomal recessive fatal disorder called Lafora's disease (LD) classically described as an adolescent-onset stimulus-sensitive myoclonus, epilepsy ..
  17. pmc Insights into Lafora disease: malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin
    Matthew S Gentry
    Department of Pharmacology, School of Medicine, University of California at San Diego, La Jolla, CA 92093 0721, USA
    Proc Natl Acad Sci U S A 102:8501-6. 2005
    ..epilepsy caused by recessive mutations in either a gene encoding a dual-specificity phosphatase, known as laforin, or a recently identified gene encoding the protein known as malin...
  18. ncbi Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
    Hannes Lohi
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada M5G 1X8
    Hum Mol Genet 14:2727-36. 2005
    Lafora progressive myoclonus epilepsy, caused by defective laforin or malin, insidiously present in normal teenagers with cognitive decline, followed by rapidly intractable epilepsy, dementia and death...
  19. ncbi A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen
    Jianyong Wang
    Life Sciences Institute and Department of Biological Chemistry, and the Biophysics Research Division, University of Michigan, Ann Arbor, Michigan 48109 0606, USA
    J Biol Chem 277:2377-80. 2002
    ..Mutations in the CBD result in mis-localization of the phosphatase and thereby suggest that the CBD targets laforin to intracellular glycogen particles where it is likely to function...
  20. ncbi Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway
    Maria Carmen Solaz-Fuster
    Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientificas, and CIBERER ISCIII, Jaime Roig 11, Valencia 46010, Spain
    Hum Mol Genet 17:667-78. 2008
    ..LD is caused by mutations in two genes, EPM2A and EPM2B, encoding respectively laforin, a dual-specificity protein phosphatase, and malin, an E3 ubiquitin ligase...
  21. ncbi A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2)
    J M Serratosa
    Laboratorio y Servicio de Neurología and Unidad de Patología Molecular, Fundacion Jimenez Diaz, Avenida Reyes Catolicos 2, 28040 Madrid, Spain
    Hum Mol Genet 8:345-52. 1999
    Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no...
  22. ncbi Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes
    S Ganesh
    Laboratory for Neurogenetics and Neural Architecture Laboratory, Brain Science Institute and Antibiotics Laboratory, The Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako Shi, Saitama 351 0198, Japan
    Hum Mol Genet 9:2251-61. 2000
    ..EPM2A is predicted to encode a putative tyrosine phosphatase protein, named laforin, whose full sequence has not yet been reported...
  23. ncbi Epm2a suppresses tumor growth in an immunocompromised host by inhibiting Wnt signaling
    Yin Wang
    Division of Cancer Immunology, Department of Pathology, and Comprehensive Cancer Center, Ohio State University Medical Center, Columbus, Ohio 43210, USA
    Cancer Cell 10:179-90. 2006
    ..Downregulation of Epm2a expression is widespread among mouse and human lymphoma cell lines. Epm2a-encoded laforin is a phosphatase for GSK-3beta and an important repressor in the Wnt signaling pathway...
  24. ncbi Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy
    B A Minassian
    Department of Genetics, The Hospital for Sick Children, University of Toronto, Ontario, Canada
    Nat Genet 20:171-4. 1998
    ..These mutations are predicted to cause deleterious effects in the putative protein product, named laforin, resulting in LD.
  25. ncbi Dimerization of Laforin is required for its optimal phosphatase activity, regulation of GSK3beta phosphorylation, and Wnt signaling
    Yan Liu
    Division of Immunotherapy, Department of Surgery, Program of Molecular Medicine and Cancer Center, University of Michigan, Ann Arbor, Michigan 48109, USA
    J Biol Chem 281:34768-74. 2006
    Epilepsy of progressive myoclonus type 2 gene A (EPM2A) encodes a dual specificity protein phosphatase called Laforin. Laforin is also a tumor suppressor that dephosphorylates GSK3beta at the critical Ser9 position and regulates Wnt ..
  26. doi The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system
    Punitee Garyali
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Hum Mol Genet 18:688-700. 2009
    ..b>Laforin, a protein phosphatase, and malin, an E3 ubiquitin ligase, are two of the proteins that are defective in LD...
  27. doi Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin
    Shweta Singh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Hum Mutat 29:E1-12. 2008
    ..Mutations in two genes, EPM2A encoding laforin phosphatase, and NHLRC1 encoding malin ubiquitin ligase, have been shown to cause the LD...
  28. ncbi Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy
    Leonarda Ianzano
    Department of Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    Hum Mutat 23:170-6. 2004
    ..The disease is caused by mutations of the EPM2A gene, which encodes two isoforms of the laforin protein tyrosine phosphatase, having alternate carboxyl termini, one localized in the cytoplasm (endoplasmic ..
  29. pmc AMP-activated protein kinase phosphorylates R5/PTG, the glycogen targeting subunit of the R5/PTG-protein phosphatase 1 holoenzyme, and accelerates its down-regulation by the laforin-malin complex
    Santiago Vernia
    Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Científicas CSIC and CIBER de Enfermedades Raras CIBERER, Jaime Roig 11, Valencia 46010, Spain
    J Biol Chem 284:8247-55. 2009
    ..We have recently described that the activity of R5/PTG is down-regulated by the laforin-malin complex, composed of a dual specificity phosphatase (laforin) and an E3-ubiquitin ligase (malin)...
  30. pmc Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates
    Carolyn A Worby
    Department of Pharmacology, University of California at San Diego, La Jolla, California 92093 0721, USA
    J Biol Chem 281:30412-8. 2006
    b>Laforin is the only phosphatase in the animal kingdom that contains a carbohydrate-binding module...
  31. ncbi Debate: Does genetic information in humans help us treat patients? PRO--genetic information in humans helps us treat patients. CON--genetic information does not help at all
    Antonio V Delgado-Escueta
    Epilepsy Genetics Genomics Laboratories, VA Greater Los Angeles Healthcare System, David Geffen School of Medicine at UCLA, West Los Angeles, California 90073, USA
    Epilepsia 49:13-24. 2008
    ..a sodium channel gene mutated in Dravet's sporadic severe myoclonic epilepsy of infancy (SMEI and SMEB); (2) laforin (dual specificity protein phosphatase) and malin (ubiquitin E3 ligase) in Lafora progressive myoclonic epilepsy (..
  32. ncbi Advances in the genetics of progressive myoclonus epilepsy
    A V Delgado-Escueta
    Comprehensive Epilepsy Program, Epilepsy Genetics Genomics Laboratories, VA GLAHS West Los Angeles Medical Center, University of California, 90095 1769, USA
    Am J Med Genet 106:129-38. 2001
    ..In the last five years, specific mutations have been defined in Lafora disease (gene for laforin or dual specificity phosphatase in 6q24), Unverricht-Lundborg disease (cystatin B in 21q22...
  33. pmc Conservation of the glucan phosphatase laforin is linked to rates of molecular evolution and the glucan metabolism of the organism
    Matthew S Gentry
    Department of Molecular and Cellular Biochemistry, University of Kentucky College of Medicine, 741 S, Limestone, BBSRB, B177, Lexington, Kentucky 40536 0509, USA
    BMC Evol Biol 9:138. 2009
    ..Mutations in the gene encoding the phosphatase laforin account for approximately 50% of LD cases, and this gene is conserved in all vertebrates...
  34. pmc Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo
    Vincent S Tagliabracci
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Proc Natl Acad Sci U S A 104:19262-6. 2007
    ..Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene, which encodes laforin, a member of the dual-specificity protein phosphatase family that additionally contains a glycogen binding domain...
  35. pmc Abnormal metabolism of glycogen phosphate as a cause for Lafora disease
    Vincent S Tagliabracci
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana 46202, USA
    J Biol Chem 283:33816-25. 2008
    ..Approximately half of the cases of Lafora disease result from mutations in the EPM2A gene, which encodes laforin, a member of the dual specificity protein phosphatase family that is able to release the small amount of covalent ..
  36. pmc Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin
    Anna A Depaoli-Roach
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana 46202 5122, USA
    J Biol Chem 285:25372-81. 2010
    ..by mutations in either the EPM2A or the EPM2B genes that encode, respectively, a glycogen phosphatase called laforin and an E3 ubiquitin ligase called malin...
  37. pmc Structural insights into glucan phosphatase dynamics using amide hydrogen-deuterium exchange mass spectrometry
    Simon Hsu
    Department of Medicine, University of California at San Diego, La Jolla, California 92093 0601, USA
    Biochemistry 48:9891-902. 2009
    b>Laforin and starch excess 4 (SEX4) are founding members of a class of phosphatases that dephosphorylate phosphoglucans. Each protein contains a carbohydrate binding module (CBM) and a dual-specificity phosphatase (DSP) domain...
  38. ncbi Superoxide dismutase and glutathione peroxidase function in progressive myoclonus epilepsies
    E Ben-Menachem
    Department of Neurology, Sahlgrenska University Hospital, 413 45, Goteborg, Sweden
    Epilepsy Res 40:33-9. 2000
    ..Five patients, four with EPM 1 (Unverricht-Lundborg disease) and one patient with EPM2 (Lafora body disease) were treated with 6 g/day of NAC...
  39. doi Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?
    Rajat Puri
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Autophagy 6:1229-31. 2010
    ..The disease can be caused by defects in the EPM2A gene encoding laforin phosphatase or the NHLRC1 gene encoding malin ubiquitin ligase...
  40. doi Escherichia coli expression, refolding and characterization of human laforin
    Pedro Castanheira
    Biocant, Molecular Biotechnology Unit, Parque Tecnológico de Cantanhede, Núcleo 4, Lote 3, Cantanhede, Portugal
    Protein Expr Purif 71:195-9. 2010
    b>Laforin is a unique human dual-specificity phosphatase as it contains an amino terminal carbohydrate binding module (CBM). Laforin gene mutations lead to Lafora disease, a progressive myoclonus epilepsy with an early fatal issue...
  41. ncbi Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy
    Elayne M Chan
    The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, Toronto, Canada
    Hum Mol Genet 13:1117-29. 2004
    ..The disease is caused by loss of function of the laforin dual-specificity phosphatase or the malin E3 ubiquitin ligase...
  42. ncbi Advances in lafora progressive myoclonus epilepsy
    Antonio V Delgado-Escueta
    Comprehensive Epilepsy Program, Epilepsy Genetics Genomics Laboratories, VA Greater Los Angeles Healthcare System, 11301 Wilshire Boulevard, West Los Angeles, CA 90073, USA
    Curr Neurol Neurosci Rep 7:428-33. 2007
    ..Mutations in EPM2A/laforin cause 58% of cases and mutations in EPM2B/malin cause 35% of cases...
  43. ncbi Regional and developmental expression of Epm2a gene and its evolutionary conservation
    S Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, 351 0198, Japan
    Biochem Biophys Res Commun 283:1046-53. 2001
    ..myoclonus epilepsy, is caused by mutations in the EPM2A gene encoding a dual-specificity phosphatase (DSP) named laforin. Here, we analyzed the developmental and regional expression of murine Epm2a and discussed its evolutionary ..
  44. pmc Glycogen metabolism in tissues from a mouse model of Lafora disease
    Wei Wang
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 5122, USA
    Arch Biochem Biophys 457:264-9. 2007
    b>Laforin, encoded by the EPM2A gene, by sequence is a member of the dual specificity protein phosphatase family...
  45. pmc Relationship between glycogen accumulation and the laforin dual specificity phosphatase
    Wei Wang
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202 5122, USA
    Biochem Biophys Res Commun 350:588-92. 2006
    b>Laforin, encoded by the EPM2A gene, is a dual specificity protein phosphatase that has a functional glycogen-binding domain...
  46. pmc Impaired autophagy in Lafora disease
    Erwin Knecht
    Laboratory of Cellular Biology, Valencia, Spain
    Autophagy 6:991-3. 2010
    ..More than 50 percent of LD is caused by mutations in EPM2A that encodes laforin. Here we review our recent findings that revealed that laforin regulates autophagy...
  47. doi Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin
    Sudheendra N R Rao
    Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre, Manesar, Gurgaon, India
    Hum Mol Genet 19:4726-34. 2010
    ..The disease is caused by mutations in either EPM2A gene, encoding the protein phosphatase, laforin, or EPM2B gene, encoding the ubiquitin ligase, malin...
  48. ncbi Mutations in NHLRC1 cause progressive myoclonus epilepsy
    Elayne M Chan
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, 555 University Avenue, Toronto, Ontario M5G 1X8, Canada
    Nat Genet 35:125-7. 2003
    ..b>Laforin and malin colocalize to the ER, suggesting they operate in a related pathway protecting against polyglucosan ..
  49. ncbi [Lafora disease. A new case of confirmation of diagnosis on molecular genetic studies]
    A Martinez-Bermejo
    Servicio de Neurología Pediátrica, Hospital Universitario La Paz, Madrid, Espana
    Rev Neurol 34:117-20. 2002
    ..Recently the gene responsible has been discovered. This permits firm diagnosis and screening of carriers. We present the case of a child diagnosed on molecular genetic studies...
  50. doi MR spectroscopy findings in Lafora disease
    Ebru Altindag
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    J Neuroimaging 19:359-65. 2009
    ..Our aim was to investigate the [(1)H] MR spectroscopy (MRS) findings of Lafora Disease (LD), which is a disabling form of progressive myoclonic epilepsy...
  51. ncbi [Lafora's disease (EPM2)]
    P Genton
    Centre Saint Paul H Gastaut, Marseille
    Rev Neurol (Paris) 163:47-53. 2007
    ..Mutations/deletions of the EPM2A gene, localized in 1995 on 6q24, are found in 80p.cent (product: laforin), the less common EPM2B variant is on 6p22 (product: malin), but these two localizations do not account for all ..
  52. ncbi Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy
    Subramaniam Ganesh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
    J Hum Genet 51:1-8. 2006
    ..The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and ..
  53. ncbi [Lafora's disease presenting with progressive myoclonus epilepsy]
    Y Bejot
    Service de Neurologie, CHU, Dijon
    Rev Neurol (Paris) 163:975-8. 2007
    ..Two genes have been recently identified. They code for two proteins, malin and laforin, involved in glycogen metabolism in the cellular endoplasmic reticulum...
  54. doi Typical progression of myoclonic epilepsy of the Lafora type: a case report
    Pasquale Striano
    Division of Neurology, The Hospital for Sick Children, 555 University Avenue, Toronto, ON M5G 1X8, Canada
    Nat Clin Pract Neurol 4:106-11. 2008
    ..A 20-year-old woman presented to a specialist epilepsy center with a 3-year history of drug-resistant epileptic seizures, progressive myoclonus, ataxia, and cognitive decline...
  55. ncbi Activation of the murine type II transforming growth factor-beta receptor gene: up-regulation and function of the transcription factor Elf-3/Ert/Esx/Ese-1
    Jae Hwan Kim
    Eppley Institute for Research in Cancer and Allied Diseases, University of Nebraska Medical Center, Omaha, Nebraska 68198 6805, USA
    J Biol Chem 277:17520-30. 2002
    ..Importantly, we present evidence that mElf-3, a member of the Ets family, plays a key role in the activation of the mTbetaR-II promoter...
  56. pmc STARCH-EXCESS4 is a laforin-like Phosphoglucan phosphatase required for starch degradation in Arabidopsis thaliana
    Oliver Kötting
    Institute of Plant Sciences, ETH Zurich, 8092 Zurich, Switzerland
    Plant Cell 21:334-46. 2009
    ..We propose that glucan phosphorylating enzymes and phosphoglucan phosphatases work in synergy with glucan hydrolases to mediate efficient starch catabolism...
  57. doi Immunophenotypic features of MELF pattern invasion in endometrial adenocarcinoma: evidence for epithelial-mesenchymal transition
    Colin J R Stewart
    Department of Histopathology, King Edward Memorial Hospital, Perth, WA, Australia
    Histopathology 55:91-101. 2009
    ..a distinctive morphological alteration characterized by the presence of microcystic, elongated and fragmented ('MELF') glands...
  58. ncbi Unusual epithelial and stromal changes in myoinvasive endometrioid adenocarcinoma: a study of their frequency, associated diagnostic problems, and prognostic significance
    Shawn K Murray
    QEII Health Sciences Center, Department of Pathology, Halifax, Nova Scotia, Canada
    Int J Gynecol Pathol 22:324-33. 2003
    ..For this constellation of changes, which in aggregate are distinctive, the authors have coined the acronym MELF (microcystic, elongated, fragmented)...
  59. pmc The Mycobacterium marinum mel2 locus displays similarity to bacterial bioluminescence systems and plays a role in defense against reactive oxygen and nitrogen species
    Selvakumar Subbian
    Dept, Microbial and Molecular Pathogenesis, Texas A and M University Health Sciences Center College of Medicine, College Station, TX 77843 1114, USA
    BMC Microbiol 7:4. 2007
    ..We recently identified a locus in Mycobacterium marinum, mel2, that plays a role during infection of macrophages. The molecular mechanism of mel2 action is not well understood...
  60. doi Expression of the functional carbohydrate-binding module (CBM) of human laforin
    Susana Moreira
    IBB Institute for Biotechnology and Bioengineering, Centre of Biological Engineering, Universidade do Minho, Braga, Portugal
    Protein Expr Purif 74:169-74. 2010
    b>Laforin is a human protein associated with the glycogen metabolism, composed of two structurally and functionally independent domains: a phosphatase catalytic domain and a substrate-binding module with glycogen and starch affinity...
  61. doi CD147 (EMMPRIN) and matrix metalloproteinase-2 expression in uterine endometrioid adenocarcinoma
    C J R Stewart
    Department of Histopathology, King Edward Memorial Hospital, Perth, Western Australia, Australia
    Pathol Res Pract 207:30-6. 2011
    ..a distinct pattern of myometrial invasion characterized by the presence of microcystic, elongated, and fragmented ('MELF') glands but the factors influencing this pattern of invasion are not known...
  62. ncbi Cloning and expression of the murine Elf-1 cDNA
    J N Davis
    Department of Tumor Cell Biology, St Jude Children s Research Hospital, Memphis, TN 38104, USA
    Gene 171:265-9. 1996
    ..We cloned and characterized the gene encoding the murine homologue of one Ets family member, Elf-1 (mElf-1), in order to gain insight into its cellular physiology...
  63. pmc Laforin confers cancer resistance to energy deprivation-induced apoptosis
    Yin Wang
    Division of Immunotherapy, Section of General Surgery, University of Michigan, Ann Arbor, Michigan 48109, USA
    Cancer Res 68:4039-44. 2008
    ..we show that the hexose kinase inhibitor 2-deoxyglucose (2-dG) preferentially kills cancer cells with defective laforin expression and significantly increases the survival of mice with aggressive lymphoma due to a genetic defect of ..
  64. ncbi An autosomal recessive cerebellar ataxia syndrome with upward gaze palsy, neuropathy, and seizures
    R Straussberg
    Neurogenetic Clinic, Schneider Children s Medical Center of Israel, Sackler School of Medicine, Tel Aviv University, Petach Tikvah, 14 Kaplan St, Petah Tikva, Israel 49202
    Neurology 64:142-4. 2005
    ..Linkage analysis excluded AOA-1, EPM1, EPM2A, EPM2B, CAMOS, and recessive ataxias linked to chromosome 9q34-9qter...
  65. ncbi Minimally invasive cervical microendoscopic laminoforaminotomy
    Domagoj Coric
    Carolina Neurosurgery and Spine Associates, Charlotte, North Carolina 28207, USA
    Neurosurg Focus 25:E2. 2008
    ..Posterior microendoscopic laminoforaminotomy (MELF) allows for neural decompression while maintaining motion via a minimally invasive approach...
  66. doi KRAS mutation and microsatellite instability in endometrial adenocarcinomas showing MELF-type myometrial invasion
    C J R Stewart
    Department of Histopathology, King Edward Memorial Hospital, Subiaco, Australia
    J Clin Pathol 63:604-8. 2010
    ..a distinctive morphological phenotype characterised by the formation of microcystic, elongated and fragmented (MELF) glands...
  67. ncbi Unusual patterns of endometrial carcinoma including MELF and its relation to epithelial mesenchymal transition
    Richard J Zaino
    Milton S Hershey Medical Center, Penn State University, Hershey, Pennsylvania
    Int J Gynecol Pathol 33:357-64. 2014
    ..1 pattern of endometrial carcinoma that he described which has areas of microcystic, elongated, fragmented glands (MELF), frequently accompanied by a fibromyxoid or inflammatory stroma, to the recently described concept of epithelial ..
  68. ncbi The C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation
    Eino Solje
    Institute of Clinical Medicine Neurology, University of Eastern Finland, Kuopio, Finland
    Neurobiol Aging 35:1780.e13-7. 2014
    ..Case II-3 had a novel predictably deleterious mutation in the progressive myoclonic epilepsy type 2 (EPM2), which may have influenced his epilepsy as the EPM2 has been implicated in Lafora progressive myoclonic epilepsy...
  69. ncbi The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease
    Javier Gayarre
    1 Centro de Investigaciones Biológicas, Consejo Superior de Investigaciones, Cientificas, Ramiro de Maeztu 9, 28040 Madrid, Spain
    Brain 137:806-18. 2014
    ..The vast majority of patients carry mutations in either the EPM2A or EPM2B genes, encoding laforin, a glucan phosphatase, and malin, an E3 ubiquitin ligase, respectively...
  70. pmc Protein Degradation and Quality Control in Cells from Laforin and Malin Knockout Mice
    Punitee Garyali
    From the Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana 46202
    J Biol Chem 289:20606-20614. 2014
    ..myoclonus epilepsy caused by mutations in the EPM2A or EPM2B genes that encode a glycogen phosphatase, laforin, and an E3 ubiquitin ligase, malin, respectively...
  71. doi Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease
    Erwin Knecht
    Laboratory of Cellular Biology, Centro de Investigacion Principe Felipe, Valencia, Spain
    Autophagy 8:701-3. 2012
    ..called Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin...
  72. ncbi Clinical and genetic findings in 26 Italian patients with Lafora disease
    Silvana Franceschetti
    Department of Clinical Neurophysiology, Istituto Nazionale Neurologico C Besta, Milan, Italy
    Epilepsia 47:640-3. 2006
    ..Genotype-phenotype correlations suggested that EPM2B patients show a slower course of the disease, with delayed age at death, compared with EPM2A patients. We herein report clinical and genetic findings of 26 Italian LD patients.
  73. doi Muscle glycogen synthase isoform is responsible for testicular glycogen synthesis: glycogen overproduction induces apoptosis in male germ cells
    Franz Villarroel-Espíndola
    Instituto de Bioquímica y Microbiología, Universidad Austral de Chile, Valdivia, Chile
    J Cell Biochem 114:1653-64. 2013
    ..Using RT-PCR, we have also shown that malin and laforin are expressed in testis, key enzymes for regulation of GS activity...
  74. ncbi Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease
    Jean Marie Girard
    Laboratoire d Enzymologie et Biochimie Structurales, UPR9063, Centre National de la Recherche Scientifique, Avenue de la Terrasse, 91198 Gif sur Yvette Cedex, France
    Biochimie 88:1961-71. 2006
    ..The first one, EPM2A, encodes the consensus sequence of a protein tyrosine phosphatase. Its product, laforin, is the object of the present work. We analysed in detail the amino acid sequence of this protein...
  75. doi Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora disease
    Felix Nitschke
    Institute of Biochemistry and Biology, University of Potsdam, Karl Liebknecht Strasse 24 25, 14476 Potsdam Golm, Germany
    Cell Metab 17:756-67. 2013
    b>Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and invariably fatal epilepsy...
  76. doi Lafora disease fibroblasts exemplify the molecular interdependence between thioredoxin 1 and the proteasome in mammalian cells
    José Luís García-Gimenez
    Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Valencia, Spain Fundación del Hospital Clínico Universitat de Valencia INCLIVA, Valencia, Spain Department of Physiology, University of Valencia, 46010 Valencia, Spain
    Free Radic Biol Med 65:347-59. 2013
    ..in Lafora disease fibroblasts and demonstrate that the nuclear colocalization of Trx1 with 20S proteasomes in laforin-deficient cells is altered compared with control cells...
  77. pmc The pattern of myometrial invasion as a predictor of lymph node metastasis or extrauterine disease in low-grade endometrial carcinoma
    Elizabeth Euscher
    The University of Texas, MD Anderson Cancer Center, Houston, TX Wayne State University, Detroit, MI Cedars Sinai Medical Center, Los Angeles, CA Penn State University, Hershey, PA Cleveland Clinic, Cleveland, OH The Ottawa Hospital, University of Ottawa, Ottawa, ON, Canada Korea University Anam Hospital Kwandong Hospital, Seoul, Republic of Korea Instituto Nacional de Cancerologia, Mexico City, Mexico
    Am J Surg Pathol 37:1728-36. 2013
    ..solid component, the presence or absence of papillary architecture, microcystic, elongated, and fragmented glands (MELF), single-cell/cell-cluster invasion (SCI), lymphovascular invasion (LVI), lower uterine segment (LUS) and cervical ..
  78. pmc Comparison of one-level microendoscopy laminoforaminotomy and cervical arthroplasty in cervical spondylotic radiculopathy: a minimum 2-year follow-up study
    Guo min Liu
    Department of Orthopedic Surgery, The Second Hospital of Jilin University, Changchun 130041, People s Republic of China
    J Orthop Surg Res 8:48. 2013
    ..study aims to compare the perioperative parameters and clinical results between microendoscopy laminoforaminotomy (MELF) and cervical arthroplasty (CA) in the treatment of one-level cervical spondylotic radiculopathy in a retrospective ..
  79. ncbi Gene symbol: EPM2A
    Maria J Trujillo-Tiebas
    Fundacion Jimenez Diaz, Department of Genetics, Av Reyes Católicos, 2, 28040, Madrid, Spain
    Hum Genet 121:290. 2007
  80. ncbi Mechanisms of unexpected and/or sudden death in Lafora disease
    Regula Wick
    Forensic Pathology, Forensic Science SA and Department of Histopathology, Women s and Children s Hospital, Adelaide, Australia
    Forensic Sci Int 163:144-7. 2006
    ..Diagnosis had been confirmed by demonstration of mutation in the EPM2A gene on chromosome 6q24. At autopsy, petechial haemorrhages were noted of the face and conjunctivae bilaterally...
  81. pmc Laforin and malin knockout mice have normal glucose disposal and insulin sensitivity
    Anna A Depaoli-Roach
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Hum Mol Genet 21:1604-10. 2012
    ..Garcia-Roves, P.M., Cansell, C., Denis, R., Luquet, S., Foufelle, F., Ferre, P. et al. (2011) Laforin, a dual-specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy ..
  82. ncbi Amplification and rearrangement of melF/mouse CD43 (leukosialin) gene encoding a highly glycosylated membrane protein gp120 in Friend erythroleukemia cells
    Y Misawa
    Department of Genetics, University of Tokyo, Japan
    Oncogene 7:919-26. 1992
    Using a differential hybridization method, we isolated a cDNA (melF) overexpressed in a murine Friend erythroleukemia cell line, F5-5...
  83. ncbi Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene
    S Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1, Hirosawa, Wako Shi, Saitama 351 0198, Japan
    Mol Cell Probes 15:281-9. 2001
    ..The progressive myoclonus epilepsy of Lafora type (LD) is an autosomal recessive disorder caused by mutations in the EPM2A gene...
  84. ncbi Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions
    P Gomez-Garre
    Servicio de Neurologia, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Hum Genet 8:946-54. 2000
    ..for Lafora disease (EPM2A) and characterised the corresponding product, a putative protein tyrosine phosphatase (LAFPTPase)...
  85. doi Galectin-3 expression in uterine endometrioid adenocarcinoma: comparison of staining in conventional tumor glands and in areas of MELF pattern myometrial invasion
    Colin J R Stewart
    Department of Histopathology, King Edward Memorial Hospital, Perth, Western Australia, Australia
    Int J Gynecol Pathol 29:555-61. 2010
    Endometrioid adenocarcinoma (EAC) of the uterus can show varying patterns of invasion, 1 of which, "MELF," is characterized by the presence of microcystic, elongated, and fragmented glands...
  86. doi Glycogen hyperphosphorylation underlies lafora body formation
    Julie Turnbull
    Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Ann Neurol 68:925-33. 2010
    ..Lafora disease is caused by deficiency of either the laforin glycogen phosphatase or the malin E3 ubiquitin ligase...
  87. ncbi Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A
    S Ganesh
    Brain Science Institute, Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako Shi, Saitama, 351 0198, Japan
    Biochem Biophys Res Commun 257:24-8. 1999
    Mutations in the novel gene, EPM2A, have been shown recently to cause the progressive myoclonus epilepsy of Lafora type...
  88. ncbi Endometrioid carcinoma of the endometrium: pathologic and molecular features
    Ainara Azueta
    Department of Pathology and Molecular Genetics, Hospital Universitari Arnau de Vilanova, University of Lleida, Lleida, IRBLLEIDA, Spain
    Semin Diagn Pathol 27:226-40. 2010
    ..features that should be recognized to avoid underestimation of these prognostic factors, such as presence of MELF pattern of myometrial invasion, and invasion of the cervical stroma with a deceptive pattern of spread...
  89. doi A novel exon 3 mutation in a Tunisian patient with Lafora's disease
    H Mrabet Khiari
    Neurological Department, Charles Nicolle Hospital, Boulevard du 9 Avril, Tunis 1006, Tunisia
    J Neurol Sci 304:136-7. 2011
    ..Genetic analysis showed a novel c.659 T>A mutation on exon 3 of the EPM2A gene, converting a leucine to a glutamine residue at amino acid position 220 (p...
  90. doi Exercise training does not correct abnormal cardiac glycogen accumulation in the db/db mouse model of type 2 diabetes
    Jane Shearer
    Kinesiology, University of Calgary, Calgary, Alberta, Canada
    Am J Physiol Endocrinol Metab 301:E31-9. 2011
    ..concentration was not associated with increases in other glycogen-associated proteins, including malin and laforin. Novel observations show that exercise training does not correct diabetes-induced elevations in cardiac glycogen ..
  91. doi Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice
    Santiago Vernia
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras, Jaime Roig 11, Valencia, Spain
    Hum Mol Genet 20:2571-84. 2011
    b>Laforin is a dual specificity protein phosphatase involved in Lafora disease (LD), a fatal form of progressive myoclonus epilepsy characterized by neurodegeneration and the presence of intracellular polyglucosan inclusions (Lafora bodies)..
  92. doi Lafora disease: a case report, pathologic and genetic study
    M H Harirchian
    Iranian Center of Neurological Research, Tehran University of Medical Science, Tehran, Iran
    Indian J Pathol Microbiol 54:374-5. 2011
    ..Molecular screening showed a homozygous R241X mutation in EPM2A. Genotyping helps in the correct diagnosis of the Lafora disease (LD), which may be difficult to diagnose based on ..
  93. ncbi Optimized unlike-pair interactions for water-carbon dioxide mixtures described by the SPC/E and EPM2 models
    Lukas Vlcek
    Chemical Sciences Division Geochemistry and Interfacial Sciences Group, Oak Ridge National Laboratory, Oak Ridge, Tennessee 37831 6110, USA
    J Phys Chem B 115:8775-84. 2011
    The unlike-pair interaction parameters for the SPC/E-EPM2 models have been optimized to reproduce the mutual solubility of water and carbon dioxide at the conditions of liquid-supercritical fluid phase equilibria...
  94. ncbi Glycogen and related polysaccharides inhibit the laforin dual-specificity protein phosphatase
    Wei Wang
    Department of Biochemistry and Molecular Biology, Center for Diabetes Research, Indiana University School of Medicine, Indianapolis, IN 46202, USA
    Biochem Biophys Res Commun 325:726-30. 2004
    ..80% of cases by mutation of the EPM2A gene, which encodes a dual specificity protein phosphatase called laforin. In addition to its phosphatase domain, laforin contains an N-terminal carbohydrate-binding domain (CBD)...
  95. pmc A Mycobacterium marinum mel2 mutant is defective for growth in macrophages that produce reactive oxygen and reactive nitrogen species
    Selvakumar Subbian
    Department of Microbial and Molecular Pathogenesis, Texas A and M University Health Sciences Center, 471 Reynolds Medical Building, College Station, TX 77843, USA
    Infect Immun 75:127-34. 2007
    ..marinum in these cells. We found that an M. marinum mutant with mutation of the first gene in the mel2 locus, melF, is defective for growth in IFN-gamma-plus-lipopolysaccharide-treated J774A...
  96. ncbi Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
    Hum Mol Genet 11:1251-62. 2002
    Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause Lafora disease (LD), a progressive and invariably fatal epilepsy with periodic acid-Schiff-positive (PAS+) cytoplasmic inclusions (Lafora bodies) in the ..
  97. ncbi Two novel mutations in the EPM2A gene in a Korean patient with Lafora's progressive myoclonus epilepsy
    Cheong Seok Ki
    Department of Clinical Pathology, Sungkyunkwan University School of Medicine, Samsung Medical Center, 50 Ilwon Dong, Kangnam Gu, Seoul 135 710, Korea
    J Hum Genet 48:51-4. 2003
    ..Mutations in the EPM2A gene have recently been found to cause LD and about 30 or more mutations have been reported thus far...
  98. ncbi Lafora disease due to EPM2B mutations: a clinical and genetic study
    C Gomez-Abad
    Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 64:982-6. 2005
    ..To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease...
  99. doi Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy
    Deepti Dubey
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Hum Mol Genet 17:3010-20. 2008
    The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a fatal form of progressive myoclonus epilepsy known as Lafora disease (LD)...
  100. pmc Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease
    Rajat Puri
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Biol Chem 284:22657-63. 2009
    ..disease; LD) is caused by mutations in the EPM2A gene encoding a dual specificity protein phosphatase named laforin. Our analyses on the Epm2a gene knock-out mice, which developed most of the symptoms of LD, reveal the presence ..

Research Grants79

  1. Regulation, signaling, and dynamics of glucan phosphatases.
    Matthew S Gentry; Fiscal Year: 2010
    ..grant is to elucidate the regulation, downstream signaling, and structural dynamics of the glucan phosphatase laforin. Mammalian cells store readily mobilized energy in the form of glycogen, a water-soluble carbohydrate...
  2. Regulation, signaling, and dynamics of glucan phosphatases.
    Matthew S Gentry; Fiscal Year: 2013
    ..grant is to elucidate the regulation, downstream signaling, and structural dynamics of the glucan phosphatase laforin. Mammalian cells store readily mobilized energy in the form of glycogen, a water-soluble carbohydrate...
  3. Molecular Pathological Mechanism & Potential Therapeutics of Lafora Disease
    Yan Liu; Fiscal Year: 2009
    ..Defects in two genes: EPM2A, which encodes a dual specificity phosphatase named Laforin and NHLRC, which encodes an E3 ligase named Malin, are identified to be directly linked to the disease...
  4. Molecular Pathological Mechanism & Potential Therapeutics of Lafora Disease
    YAN NONE LIU; Fiscal Year: 2010
    ..Defects in two genes: EPM2A, which encodes a dual specificity phosphatase named Laforin and NHLRC, which encodes an E3 ligase named Malin, are identified to be directly linked to the disease...
  5. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    MATTHEW GENTRY; Fiscal Year: 2009
    The focus of this grant is to determine how laforin, the only phosphatase in Kingdom Animalia with a carbohydrate binding domain, regulates changes in glycogen metabolism in vertebrates and invertebrates...
  6. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    MATTHEW GENTRY; Fiscal Year: 2009
    The focus of this grant is to determine how laforin, the only phosphatase in Kingdom Animalia with a carbohydrate binding domain, regulates changes in glycogen metabolism in vertebrates and invertebrates...
  7. Use of Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    MATTHEW GENTRY; Fiscal Year: 2007
    The focus of this application is to determine how laforin, the only phosphatase in Kingdom Animalia with a carbohydrate-binding domain, regulates changes in glycogen metabolism in vertebrates and invertebrates...
  8. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    Matthew S Gentry; Fiscal Year: 2010
    The focus of this grant is to determine how laforin, the only phosphatase in Kingdom Animalia with a carbohydrate binding domain, regulates changes in glycogen metabolism in vertebrates and invertebrates...
  9. Glycogen metabolism and its regulation
    Peter Roach; Fiscal Year: 2009
    ..Aim (iii) Glycogen branching, laforin and Lafora disease. Laforin is a dual specificity protein phosphatase that contains a glycogen binding domain...
  10. Glycogen metabolism and its regulation
    Peter Roach; Fiscal Year: 2009
    ..Aim (iii) Glycogen branching, laforin and Lafora disease. Laforin is a dual specificity protein phosphatase that contains a glycogen binding domain...
  11. Glycogen metabolism and its regulation
    Peter Roach; Fiscal Year: 2006
    ..Aim (iii) Glycogen branching, laforin and Lafora disease. Laforin is a dual specificity protein phosphatase that contains a glycogen binding domain...
  12. Glycogen metabolism and its regulation
    Peter Roach; Fiscal Year: 2005
    ..Aim (iii) Glycogen branching, laforin and Lafora disease. Laforin is a dual specificity protein phosphatase that contains a glycogen binding domain...
  13. Regulation, signaling, and dynamics of glucan phosphatases.
    Matthew S Gentry; Fiscal Year: 2013
    ..grant is to elucidate the regulation, downstream signaling, and structural dynamics of the glucan phosphatase laforin. Mammalian cells store readily mobilized energy in the form of glycogen, a water-soluble carbohydrate...
  14. Glycogen Metabolism and Lafora Disease
    Peter J Roach; Fiscal Year: 2013
    ..Some 90% of cases of Lafora disease can be attributed to mutations in the EPM2A gene which encodes laforin, a phosphatase that places in the dual specificity protein phosphatase family based on sequence, or the EPM2B ..
  15. Novel Protein Phosphatases
    Jack Dixon; Fiscal Year: 2006
    ..The first two specific aims are directed at understanding laforin, a phosphatase mutated in the most severe form of progressive myoclonus epilepsy, Lafora's disease (LD)...
  16. Novel Protein Phosphatases
    Jack Dixon; Fiscal Year: 2009
    ..The first two specific aims are directed at understanding laforin, a phosphatase mutated in the most severe form of progressive myoclonus epilepsy, Lafora's disease (LD)...
  17. Novel Protein Phosphatases
    Jack Dixon; Fiscal Year: 2007
    ..The first two specific aims are directed at understanding laforin, a phosphatase mutated in the most severe form of progressive myoclonus epilepsy, Lafora's disease (LD)...
  18. Novel Protein Phosphatases
    Jack Dixon; Fiscal Year: 2006
    ..The first two specific aims are directed at understanding laforin, a phosphatase mutated in the most severe form of progressive myoclonus epilepsy, Lafora's disease (LD)...
  19. Glycogen metabolism and its regulation
    Peter Roach; Fiscal Year: 2007
    ..Aim (iii) Glycogen branching, laforin and Lafora disease. Laforin is a dual specificity protein phosphatase that contains a glycogen binding domain...
  20. Hormonal Regulation of Glycogen Synthesis
    ALAN SALTIEL; Fiscal Year: 2007
    ..Finally, in Aim 3, we will evaluate the role of a dual specificity protein phosphatase called Laforin in regulating glycogen metabolism and branching. Laforin dynamically regulates AGL along with PTG...
  21. Hormonal Regulation of Glycogen Synthesis
    ALAN SALTIEL; Fiscal Year: 2009
    ..Finally, in Aim 3, we will evaluate the role of a dual specificity protein phosphatase called Laforin in regulating glycogen metabolism and branching. Laforin dynamically regulates AGL along with PTG...
  22. Hormonal Regulation of Glycogen Synthesis
    Alan R Saltiel; Fiscal Year: 2010
    ..Finally, in Aim 3, we will evaluate the role of a dual specificity protein phosphatase called Laforin in regulating glycogen metabolism and branching. Laforin dynamically regulates AGL along with PTG...
  23. Glycogen Metabolism and Lafora Disease
    Peter Roach; Fiscal Year: 2009
    ..Some 90% of cases of Lafora disease can be attributed to mutations in the EPM2A gene which encodes laforin, a phosphatase that places in the dual specificity protein phosphatase family based on sequence, or the EPM2B ..
  24. Trojan horse gene therapy of inclusion body disease
    Eain M Cornford; Fiscal Year: 2010
    ..immunoliposomes (PIL) and establish BBB delivery of a) an exogenous gene and b) delivery of the normal EPM2a/laforin gene, in mice bearing a significant inclusion body burden...
  25. Trojan horse gene therapy of inclusion body disease
    EAIN CORNFORD; Fiscal Year: 2007
    ..immunoliposomes (PIL) and establish BBB delivery of a) an exogenous gene and b) delivery of the normal EPM2a/laforin gene, in mice bearing a significant inclusion body burden...
  26. Trojan horse gene therapy of inclusion body disease
    EAIN CORNFORD; Fiscal Year: 2009
    ..immunoliposomes (PIL) and establish BBB delivery of a) an exogenous gene and b) delivery of the normal EPM2a/laforin gene, in mice bearing a significant inclusion body burden...
  27. Blood-brain barrier gene delivery in knock-out mice
    EAIN CORNFORD; Fiscal Year: 2004
    ..The aims are: (1) To prepare pegylated immunoliposomes (PIL) for delivery of the normal EPM2a/laforin gene; (2) to administer PILs in a knockout mouse model of Lafora's Disease; (3) to confirm uniform delivery of ..
  28. Blood-brain barrier gene delivery in knock-out mice.
    EAIN CORNFORD; Fiscal Year: 2005
    ..The aims are: (1) To prepare pegylated immunoliposomes (PIL) for delivery of the normal EPM2a/laforin gene; (2) to administer PILs in a knockout mouse model of Lafora's Disease; (3) to confirm uniform delivery of ..
  29. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010
    ..Cures in JME can become a reality only by defining its many genes and then unravelling their epilepsy/disease causing mechanisms. ..
  30. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
    ..In 1998 we reported mutations in a novel gene (EPM2A) that encodes a protein (laforin) and, in 2000, proved that laforin is actually a dual specificity protein tyrosine phosphatase (ds-PTP), 38 kDa ..
  31. Discovering More Juvenile Myoclonic Epilepsy Genes by a Consortium
    ANTONIO V contact DELGADO ESCUETA; Fiscal Year: 2010
    ..Cures in JME can become a reality only by defining its many genes and then unravelling their epilepsy/disease causing mechanisms. ..
  32. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2001
    ..In 1998 we reported mutations in a novel gene (EPM2A) that encodes a protein (laforin) and, in 2000, proved that laforin is actually a dual specificity protein tyrosine phosphatase (ds-PTP), 38 kDa ..
  33. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2002
    ..In 1998 we reported mutations in a novel gene (EPM2A) that encodes a protein (laforin) and, in 2000, proved that laforin is actually a dual specificity protein tyrosine phosphatase (ds-PTP), 38 kDa ..
  34. Novel Protein Phosphatases
    Jack Dixon; Fiscal Year: 2005
    ..The first two specific aims are directed at understanding laforin, a phosphatase mutated in the most severe form of progressive myoclonus epilepsy, Lafora's disease (LD)...
  35. Molecular Mechanism of Pathogenesis
    Jack Dixon; Fiscal Year: 2007
    ..Finally, we propose to obtain the x-ray structure of AvrPphB complexed with a peptide substrate. These experiments will provide us with new insights into the molecular mechanism of pathogenesis. ..
  36. PROTEIN TYROSINE PHOSPHATASES--STRUCTURE/FUNCTION
    Jack Dixon; Fiscal Year: 1999
    ..We plan to extend our structural and functional studies to other members of the PLD supergene family. ..
  37. Molecular Mechanism of Pathogenesis
    Jack Dixon; Fiscal Year: 2004
    ..Finally, we propose to obtain the x-ray structure of AvrPphB complexed with a peptide substrate. These experiments will provide us with new insights into the molecular mechanism of pathogenesis. ..
  38. PROTEIN TYROSINE PHOSPHATASES--STRUCTURE/FUNCTION
    Jack Dixon; Fiscal Year: 2002
    ..We plan to extend our structural and functional studies to other members of the PLD supergene family. ..
  39. PROTEIN TYROSINE PHOSPHATASES--STRUCTURE/FUNCTION
    Jack Dixon; Fiscal Year: 2003
    ..We plan to extend our structural and functional studies to other members of the PLD supergene family. ..
  40. PROTEIN TYROSINE PHOSPHATASES--STRUCTURE/FUNCTION
    Jack Dixon; Fiscal Year: 2003
    ..We plan to extend our structural and functional studies to other members of the PLD supergene family. ..
  41. PROTEIN TYROSINE PHOSPHATASES--STRUCTURE/FUNCTION
    Jack Dixon; Fiscal Year: 2002
    ..We plan to extend our structural and functional studies to other members of the PLD supergene family. ..
  42. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2000
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  43. STRUCTURE AND REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 2003
    ..Furthermore, advances in our knowledge of insulin action are of central importance to understanding whole body glucose metabolism and its impairment, as in diabetes. ..
  44. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 1990
    ..Success would significantly extend knowledge of the mechanisms of action of several hormones, notably insulin, of obvious relevance to better understanding of situations of impaired insulin control such as in diabetes...
  45. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2003
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  46. STRUCTURE AND REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 1999
    ..Success in this investigation should lead to improved understanding of the physiological role of some of the major type 1 phosphatases. ..
  47. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2002
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  48. Glycogen Metabolism and Lafora Disease
    Peter Roach; Fiscal Year: 2009
    ..Some 90% of cases of Lafora disease can be attributed to mutations in the EPM2A gene which encodes laforin, a phosphatase that places in the dual specificity protein phosphatase family based on sequence, or the EPM2B ..
  49. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2004
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  50. Glycogen Metabolism and Lafora Disease
    Peter J Roach; Fiscal Year: 2010
    ..Some 90% of cases of Lafora disease can be attributed to mutations in the EPM2A gene which encodes laforin, a phosphatase that places in the dual specificity protein phosphatase family based on sequence, or the EPM2B ..
  51. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2002
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  52. GLYCOGEN METABOLISM AND SIGNAL TRANSDUCTION IN YEAST
    Peter Roach; Fiscal Year: 2005
    ..Yeast has proven to be a useful experimental system to study vesicular trafficking and such may be true for the study of autophagy and its relationship to glycogen metabolism (aim iii). ..
  53. RESEARCH TRAINING PROGRAM IN DIABETES AND OBESITY
    Peter Roach; Fiscal Year: 2007
    ..abstract_text> ..
  54. GLYCOGEN METABOLISM AND SIGNAL TRANSDUCTION IN YEAST
    Peter Roach; Fiscal Year: 2004
    ..Yeast has proven to be a useful experimental system to study vesicular trafficking and such may be true for the study of autophagy and its relationship to glycogen metabolism (aim iii). ..
  55. HORMONAL CONTROL OF GLYCOGEN METABOLISM
    Peter Roach; Fiscal Year: 2001
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  56. GLYCOGEN METABOLISM AND SIGNAL TRANSDUCTION IN YEAST
    Peter Roach; Fiscal Year: 2001
    ..Yeast has proven to be a useful experimental system to study vesicular trafficking and such may be true for the study of autophagy and its relationship to glycogen metabolism (aim iii). ..
  57. GLYCOGEN METABOLISM AND SIGNAL TRANSDUCTION IN YEAST
    Peter Roach; Fiscal Year: 1992
    ..The research, though fundamental in nature, is relevant to situations of impaired hormonal control, such as in diabetes...
  58. STRUCTURE & REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 1991
    ..Success in this investigation will be of widespread significance since these phosphatases are believed to regulate a variety of metabolic pathways and other cellular functions...
  59. STRUCTURE & REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 1990
    ..Success in this investigation will be of widespread significance since these phosphatases are believed to regulate a variety of metabolic pathways and other cellular functions...