EPM2A

Summary

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

Top Publications

  1. 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
  2. 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
  3. 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
  4. 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
  5. 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
  6. 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
  7. 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
  8. 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
  9. 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
  10. 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

Research Grants

  1. Molecular Pathological Mechanism & Potential Therapeutics of Lafora Disease
    YAN NONE LIU; Fiscal Year: 2010
  2. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    Matthew S Gentry; Fiscal Year: 2010
  3. Matthew S Gentry; Fiscal Year: 2016
  4. Peter J Roach; Fiscal Year: 2016
  5. Regulation of Hepatic Carbohydrate Metabolism by STBD1
    Alan Cheng; Fiscal Year: 2012
  6. Hormonal Regulation of Glycogen Synthesis
    Alan R Saltiel; Fiscal Year: 2010
  7. Blood-brain barrier gene delivery in knock-out mice.
    EAIN CORNFORD; Fiscal Year: 2005
  8. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
  9. STRUCTURE AND REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 2004
  10. Peter J Roach; Fiscal Year: 2016

Scientific Experts

Detail Information

Publications161 found, 100 shown here

  1. 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.
  2. 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...
  3. 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...
  4. 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...
  5. 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 ..
  6. 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...
  7. 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...
  8. 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 ..
  9. 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 ..
  10. 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...
  11. 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...
  12. 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...
  13. 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...
  14. 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)...
  15. 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...
  16. 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...
  17. 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...
  18. 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...
  19. 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
    ..Furthermore, we tested other members of the glucan phosphatase family...
  20. pmc 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...
  21. 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 ..
  22. 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...
  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. 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...
  25. 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.
  26. doi 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...
  27. 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...
  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. 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...
  30. doi 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 (..
  31. 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...
  32. 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...
  33. 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...
  34. 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 ..
  35. 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...
  36. 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
    ..groups have shown that these phosphatases dephosphorylate phosphoglucans, there is no structure of a glucan phosphatase and little is known about the mechanism whereby they perform this action...
  37. 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...
  38. 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...
  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. 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 ..
  41. 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...
  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. 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...
  44. 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...
  45. 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 ..
  46. 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...
  47. 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...
  48. 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...
  49. 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 ..
  50. 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 ..
  51. 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...
  52. 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...
  53. 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...
  54. 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...
  55. 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...
  56. 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...
  57. 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 ..
  58. doi 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...
  59. ncbi Progressive myoclonus epilepsy with polyglucosans (Lafora disease): evidence for a third locus
    E M Chan
    Program in Genetics and Genomic Biology, Research Institute, The Hospital for Sick Children, Toronto, Canada
    Neurology 63:565-7. 2004
    ..It is caused by recessive mutations in the EPM2A or EPM2B genes. The authors describe a family with three affected members with no mutations in either gene...
  60. ncbi Gene symbol: EPM2A
    Maria J Trujillo-Tiebas
    Fundacion Jimenez Diaz, Department of Genetics, Av Reyes Católicos, 2, 28040, Madrid, Spain
    Hum Genet 121:289. 2007
  61. 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...
  62. 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...
  63. 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...
  64. doi Impaired autophagy: a link between neurodegenerative diseases and progressive myoclonus epilepsies
    Mira Polajnar
    Department of Biochemistry, Molecular and Structural Biology, Jozef Stefan Institute, Jamova 39, 1000 Ljubljana, Slovenia
    Trends Mol Med 17:293-300. 2011
    ..or impaired in neurodegenerative conditions, and it is also impaired in some PMEs, the clearest example being EPM2 (Lafora disease)...
  65. pmc Neurodegeneration and functional impairments associated with glycogen synthase accumulation in a mouse model of Lafora disease
    Jordi Valles-Ortega
    Institute for Research in Biomedicine IRB Barcelona Barcelona, Spain
    EMBO Mol Med 3:667-81. 2011
    Lafora disease (LD) is caused by mutations in either the laforin or malin gene. The hallmark of the disease is the accumulation of polyglucosan inclusions called Lafora Bodies (LBs)...
  66. pmc Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells
    Li Zeng
    Department of Surgery, University of Michigan Medical Center, Ann Arbor, MI 48109, USA
    FEBS J 279:2467-78. 2012
    Mutations in either EPM2A, the gene encoding a dual-specificity phosphatase named laforin, or NHLRC1, the gene encoding an E3 ubiquitin ligase named malin, cause Lafora disease in humans...
  67. pmc Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease
    Jaiprakash Sharma
    Cellular and Molecular Neuroscience, National Brain Research Centre, Manesar, Gurgaon 122 050, India
    J Biol Chem 288:9482-90. 2013
    ..the accumulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phosphatase laforin or ubiquitin ligase malin...
  68. doi Glycogenic activity of R6, a protein phosphatase 1 regulatory subunit, is modulated by the laforin-malin complex
    Carla Rubio-Villena
    Instituto de Biomedicina de Valencia, CSIC, and Centro de Investigación en Red de Enfermedades Raras, Jaime Roig 11, 46010 Valencia, Spain
    Int J Biochem Cell Biol 45:1479-88. 2013
    ..that PPP1R3D (R6), one of the PP1 glycogenic targeting subunits, interacts physically with laforin, a glucan phosphatase involved in Lafora disease, a fatal type of progressive myoclonus epilepsy...
  69. doi Increased oxidative stress and impaired antioxidant response in Lafora disease
    Carlos Romá-Mateo
    Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientificas IBV CSIC, C Jaime Roig, 11, 46010, Valencia, Spain
    Mol Neurobiol 51:932-46. 2015
    ..and caused, in the vast majority of cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin and malin...
  70. doi Lafora disease proteins laforin and malin negatively regulate the HIPK2-p53 cell death pathway
    Mamta Upadhyay
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Biochem Biophys Res Commun 464:106-11. 2015
    ..LD is caused by defects in either the laforin protein phosphatase or the malin E3 ubiquitin ligase...
  71. doi Risk factor analysis of recurrence in low-grade endometrial adenocarcinoma
    Andres A Roma
    Robert J Tomsich Pathology and Laboratory Medicine Institute, Department of Pathology, Cleveland Clinic, Cleveland, OH, 44195 Electronic address
    Hum Pathol 46:1529-39. 2015
    ..superficial myoinvasion; minimal to no LVI; and minimal myoinvasion with microcystic, elongated, and fragmented (MELF) pattern; low nuclear grade and superficial myoinvasion persisted on multivariate analysis...
  72. doi Increased oxidative stress and impaired antioxidant response in Lafora disease
    Carlos Romá-Mateo
    University of Valencia Faculty of Medicine and Dentistry, Department of Physiology, Valencia, Spain Electronic address
    Free Radic Biol Med 75:S47. 2014
    ..and caused, in the vast majority of cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin and malin...
  73. pmc The laforin/malin E3-ubiquitin ligase complex ubiquitinates pyruvate kinase M1/M2
    Rosa Viana
    Instituto de Biomedicina de Valencia, CSIC, and Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Jaime Roig 11, 46010, Valencia, Spain
    BMC Biochem 16:24. 2015
    ..disorder produced mainly by mutations in two genes: EPM2A, encoding the dual specificity phosphatase laforin, and EPM2B, encoding the E3-ubiquitin ligase malin...
  74. pmc Incorporation of phosphate into glycogen by glycogen synthase
    Christopher J Contreras
    Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, 635 Barnhill Drive, Indianapolis, IN 46202, USA
    Arch Biochem Biophys 597:21-9. 2016
    ..In the absence of the laforin phosphatase, as in the rare childhood epilepsy Lafora disease, the phosphorylation level is elevated and is ..
  75. pmc Unique carbohydrate binding platforms employed by the glucan phosphatases
    Shane Emanuelle
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, University of Kentucky, Lexington, KY, 40536, USA
    Cell Mol Life Sci 73:2765-78. 2016
    ..The founding member of the family is a bimodular human protein called laforin that is comprised of a carbohydrate binding module 20 (CBM20) followed by a dual specificity phosphatase domain...
  76. pmc S100A4 accelerates the proliferation and invasion of endometrioid carcinoma and is associated with the "MELF" pattern
    Shinichiro Tahara
    Department of Pathology, Osaka University Graduate School of Medicine, Osaka, Japan
    Cancer Sci 107:1345-52. 2016
    ..and diffuse expression of S100A4 was observed in tumor tissues with a microcystic, elongated and fragmented ("MELF") pattern, which is associated with a highly invasive EC phenotype...
  77. pmc Structural biology of glucan phosphatases from humans to plants
    Matthew S Gentry
    Department of Molecular and Cellular Biochemistry and Center for Structural Biology, University of Kentucky, Lexington, KY 40536, United States Electronic address
    Curr Opin Struct Biol 40:62-69. 2016
    ..The human glucan phosphatase laforin is the founding member of the family and it is comprised of a carbohydrate binding module (CBM) ..
  78. doi Loss of laforin or malin results in increased Drp1 level and concomitant mitochondrial fragmentation in Lafora disease mouse models
    Mamta Upadhyay
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India Electronic address
    Neurobiol Dis . 2017
    ..LD can be caused by defects either in the laforin phosphatase coded by the EPM2A gene or in the malin E3 ubiquitin ligase coded by the NHLRC1 gene...
  79. 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...
  80. 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)...
  81. ncbi Skin biopsy in Lafora disease: genotype-phenotype correlations and diagnostic pitfalls
    D M Andrade
    Program in Genetics and Genomic Biology, Research Institute, Hospital for Sick Children and University of Toronto, Ontario, Canada
    Neurology 61:1611-4. 2003
    ..The disease is caused by mutations in either the EPM2A gene or in a second yet-unknown gene...
  82. ncbi Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B
    Elayne M Chan
    Program in Genetics and Genomic Biology, The Hospital for Sick Children, Toronto, Canada
    Adv Neurol 95:47-57. 2005
  83. ncbi A unique mechanism for methyl ester formation via an amide intermediate found in myxobacteria
    Inga Müller
    Universitat des Saarlandes, Institut für Pharmazeutische Biotechnologie, Im Stadtwald, 66123 Saarbrucken, Germany
    Chembiochem 7:1197-205. 2006
    ..The final steps of melithiazol assembly involve a highly similar protein-bound intermediate (attached to MelF, a homologue of MtaF), which is transformed to an amide by MelG (homologue of MtaG)...
  84. 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...
  85. 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...
  86. doi Rapidly progressive phenotype of Lafora disease associated with a novel NHLRC1 mutation
    Florian A Brackmann
    Department of Pediatrics, Friedrich Alexander University of Erlangen Nuremberg, Loschgestrasse 15, 91054 Erlangen, Germany
    Pediatr Neurol 44:475-7. 2011
    ..with a more benign clinical course and later age of death, compared with epilepsy progressive myoclonus type 2A (EPM2A) mutations...
  87. doi Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy
    Deepti Dubey
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, 208016, India
    Genomics 99:36-43. 2012
    ..form a heterodimeric complex that is inactive as a phosphatase in vitro, suggesting an antagonistic function for laforin isoforms if expressed endogenously in significant amounts in human tissues...
  88. doi Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy
    Olga Criado
    Centro de Investigaciones Biologicas, Consejo Superior de Investigaciones Cientificas, Ramiro de Maeztu 9, 28040 Madrid, Spain
    Hum Mol Genet 21:1521-33. 2012
    ..the presence of intracellular inclusions called Lafora bodies (LBs), is caused by loss-of-function mutations in laforin or malin...
  89. ncbi Lafora progressive myoclonus epilepsy: recent insights into cell degeneration
    Carlos Spuch
    Department of Pathology and Neuropathology, University Hospital of Vigo CHUVI, Hospital of Meixoeiro, Meixoeiro s n, 36215, Vigo, Spain
    Recent Pat Endocr Metab Immune Drug Discov 6:99-107. 2012
    ..The two genes known to be involved in Lafora disease are EPM2A and NHLRC1 (EPM2B). The EPM2A gene encodes laforin, a dual-specificity protein phosphatase, and the NHLRC1 gene encodes malin, an E3-ubiquitin ligase...
  90. doi Influence of the long-range corrections on the interfacial properties of molecular models using Monte Carlo simulation
    J M Miguez
    Departamento de Física Aplicada, Facultade de Ciencias, Universidade de Vigo, E36310 Vigo, Spain
    J Chem Phys 138:034707. 2013
    ..water (namely the original TIP4P model, and the TIP4P/Ew and TIP4P/2005 versions), and carbon dioxide (MSM, EPM2, TraPPE, and ZD models) have been studied...
  91. pmc Laforin prevents stress-induced polyglucosan body formation and Lafora disease progression in neurons
    Yin Wang
    Section of General Surgery, Department of Surgery, University of Michigan Medical Center, Ann Arbor, MI 48109, USA
    Mol Neurobiol 48:49-61. 2013
    ..and metabolism, though progress is accruing through the neurodegenerative epilepsy Lafora disease (LD) proteins laforin and malin...
  92. pmc A bioassay for Lafora disease and laforin glucan phosphatase activity
    Amanda R Sherwood
    Department of Molecular and Cellular Biochemistry, Center for Structural Biology, University of Kentucky, Lexington, KY 405036 0001, USA
    Clin Biochem 46:1869-76. 2013
    ..yet invariably fatal form of progressive neurodegenerative epilepsy resulting from mutations in the phosphatase laforin. Several therapeutic options for Lafora disease patients are currently being explored, and these therapies would ..
  93. doi Three patients with lafora disease: different clinical presentations and a novel mutation
    Hatice Gamze Poyrazoglu
    Department of Pediatrics, Division of Pediatric Neurology, Faculty of Medicine, Erciyes University, Kayseri, Turkey
    J Child Neurol 30:777-81. 2015
    ..Responsible mutations of Lafora disease involves either the EPM2A or NHLRC1 (EPM2B) gene...
  94. pmc Neuronal glycogen synthesis contributes to physiological aging
    Christopher Sinadinos
    Institute for Research in Biomedicine IRB Barcelona, Barcelona, Spain
    Aging Cell 13:935-45. 2014
    ..In humans, loss-of-function mutations in laforin and malin, proteins involved in suppressing glycogen synthesis, induce the presence of high numbers of insoluble ..
  95. doi Thermal conductivity of carbon dioxide from non-equilibrium molecular dynamics: a systematic study of several common force fields
    Thuat T Trinh
    Department of Chemistry, Norwegian University of Science and Technology, Trondheim, Norway
    J Chem Phys 141:134504. 2014
    ..A direct comparison with experimental data is made. Three popular CO2 force fields (MSM, EPM2, and TraPPE) and two flexible models (based on EPM2) were investigated...
  96. ncbi Energy deposition of H and He ion beams in hydroxyapatite films: a study with implications for ion-beam cancer therapy
    Silvina Limandri
    Centro Atomico Bariloche, RA 8400 San Carlos de Bariloche, Argentina
    Phys Rev E Stat Nonlin Soft Matter Phys 89:022703. 2014
    ..calculations (stopping power and mean excitation energy) based on the dielectric formalism together with the MELF-GOS (Mermin energy loss function-generalized oscillator strength) method to describe the electronic excitation ..
  97. pmc Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease
    Anna A Depaoli-Roach
    From the Department of Biochemistry and Molecular Biology, Indiana University School of Medicine, Indianapolis, Indiana 46202 and
    J Biol Chem 290:841-50. 2015
    ..Some 90% of Lafora cases are attributed to mutations of the EPM2A or EPM2B genes, and mice with either gene disrupted accumulate hyperphosphorylated glycogen...
  98. doi 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...
  99. doi 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...

Research Grants11

  1. 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...
  2. 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...
  3. Matthew S Gentry; Fiscal Year: 2016
    ..objective of this grant is to elucidate the regulation, downstream signaling, and structural dynamics of the glucan phosphatase laforin...
  4. Peter J Roach; Fiscal Year: 2016
    ..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 ..
  5. Regulation of Hepatic Carbohydrate Metabolism by STBD1
    Alan Cheng; Fiscal Year: 2012
    ..Additional studies indicate that the dual specificity phosphatase Laforin acts as a molecular scaffold for this process...
  6. 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...
  7. 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 ..
  8. 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 ..
  9. STRUCTURE AND REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 2004
    ..Furthermore, advances in our knowledge of insulin action are of central importance to understanding whole body glucose metabolism and its impairment, as in diabetes. ..
  10. Peter J Roach; Fiscal Year: 2016
    ..We will also attempt to assess in animal models the roles of phosphorylation and G6P activation of GS in controlling glycogen synthesis ..
  11. 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). ..