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), glucan phosphatase, lafora PTPase
Species: human

Top Publications

  1. 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
  2. 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
  3. 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
  4. 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
  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 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
  7. 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
  8. 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
  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 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

Scientific Experts

Detail Information

Publications144 found, 100 shown here

  1. 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) ..
  2. 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 hypothesis is that glycogen phosphorylation can be considered a catalytic error and laforin a repair enzyme...
  3. 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...
  4. 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
    ..is a fatal autosomal recessive neurodegenerative 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...
  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 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
    ..Thus, our results define a novel role of AMPK in glycogen homeostasis...
  7. 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
    ..This study demonstrates that laforin and malin are key regulators of HSF1 and that defects in the HSF1-mediated stress response pathway might underlie some of the pathological symptoms in LD...
  8. 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
    ..LD) is a fatal autosomal recessive neurodegenerative 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...
  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 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
    ..Therefore, we hypothesize that laforin is unique in its ability to utilize a phosphorylated complex carbohydrate as a substrate and that this function may be necessary for the maintenance of normal cellular glycogen...
  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
    ..These results suggest an additional mechanism, involving laforin and malin, in regulating glycogen metabolism...
  12. 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 ..
  13. 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
    ..Furthermore, these data distinguish malin as an E3 Ub ligase whose activity is necessary to prevent a neurodegenerative disease that involves formation of nonproteinacious inclusion bodies...
  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
    ..Thus, defects in protein degradation and clearance are likely to be the primary trigger in the physiopathology of LD...
  15. 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
    ....
  16. 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...
  17. 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...
  18. 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
    ..epilepsy of Lafora type) is an autosomal recessive neurodegenerative disorder resulting from defects in the EPM2A gene. EPM2A encodes a 331-amino acid protein containing a carboxyl-terminal phosphatase catalytic domain...
  19. 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
    ..Using a positional cloning approach, we have identified at chromosome 6q24 a novel gene, EPM2A, that encodes a protein with consensus amino acid sequence indicative of a protein tyrosine phosphatase (PTP)...
  20. 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
    The progressive myoclonus epilepsy of Lafora type is an autosomal recessive disorder caused by mutations in the EPM2A gene...
  21. 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...
  22. 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...
  23. 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
    ....
  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
    ..Finally, we show that laforins and SEX4 dephosphorylate a complex carbohydrate and form the only family of phosphatases with this activity. These results provide a molecular explanation for the etiology of LD...
  25. 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 ..
  26. 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
    ..We show that, in a line of TCR transgenic TG-B mice, an insertional mutation in one allele of the Epm2a locus and epigenetic silencing of another led to a high rate of lymphoma with early onset...
  27. 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
    The majority of the Lafora's disease (LD) is caused by defect in the EPM2A gene, including missense and nonsense mutations and deletions...
  28. 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...
  29. 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, ..
  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
    ....
  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
    ..31) and the mitochondrial syndrome MERRF (tRNA Lys mutation in mitochondrial DNA). In this review, we cover mainly these rapid advances...
  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
    ..We recently demonstrated that laforin is the founding member of a unique class of phosphatases that dephosphorylate glucans...
  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 ..
  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 ..
  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
    ..of Lafora disease, a fatal teenage-onset progressive myoclonus epilepsy, are caused by mutations in either the EPM2A or the EPM2B genes that encode, respectively, a glycogen phosphatase called laforin and an E3 ubiquitin ligase ..
  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
    ..In addition, we show that the laforin interacting protein, EPM2AIP1, also localizes on the polyglucosan masses, and we confirm laforin's intense binding to LBs in human LD biopsy material...
  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 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...
  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
    Laforin, encoded by the EPM2A gene, by sequence is a member of the dual specificity protein phosphatase family...
  42. 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
    Lafora's disease, an autosomal recessive progressive myoclonus epilepsy, is caused by mutations in the EPM2A gene encoding a dual-specificity phosphatase (DSP) named laforin...
  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
    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
    ..We previously discovered that mutations in EPM2A cause Lafora disease...
  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
    ..Transmission is autosomal recessive. LD is genetically heterogeneous. Mutations/deletions of the EPM2A gene, localized in 1995 on 6q24, are found in 80p...
  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
    ..At least three genes underlie LD, of which two have been isolated and mutations characterised: EPM2A and NHLRC1...
  51. ncbi [Lafora's disease presenting with progressive myoclonus epilepsy]
    Y Bejot
    Service de Neurologie, CHU, Dijon
    Rev Neurol (Paris) 163:975-8. 2007
    ..Axila sweat gland duct biopsy was performed to conclude to the disease. A mutation was found on the gene EPM2A. Lafora's disease is a genetic autosomal-recessive pathology. Two genes have been recently identified...
  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. 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...
  55. 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...
  56. 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
    ..Indeed, this is the first work reporting the production of the functional CBM from human laforin...
  57. 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...
  58. 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
    ..increases the survival of mice with aggressive lymphoma due to a genetic defect of the laforin-encoding Epm2a gene. Normal cells from Epm2a(-/-) mice also had greatly increased susceptibility to 2-dG...
  59. 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...
  60. 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...
  61. 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...
  62. 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...
  63. 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)...
  64. 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
    ..In this work, we detail a simple and sensitive bioassay that can be used for the detection of functional endogenous laforin from human and mouse tissue...
  65. 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
    ....
  66. 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
    ..These results demonstrate that neuronal glycogen accumulation contributes to physiological aging and may therefore constitute a key factor regulating age-related neurological decline in humans. ..
  67. 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...
  68. 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
    ..We propose that deficiency in the degradative phase of this metabolism, leading to LB accumulation and resultant seizure predisposition and neurodegeneration, underlies LD...
  69. 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
  70. 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...
  71. 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
    ..These data demonstrate similarities between the Epm2a-/- and Epm2b-/- mice that provide further insights into LD pathogenesis...
  72. 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)...
  73. 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)...
  74. 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...
  75. 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...
  76. 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
    The EPM2A gene, defective in the fatal neurodegenerative disorder Lafora disease (LD), is known to encode two distinct proteins by differential splicing; a phosphatase active cytoplasmic isoform and a phosphatase inactive nuclear isoform...
  77. 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 ..
  78. 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...
  79. 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...
  80. 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...
  81. 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...
  82. doi 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 ..
  83. 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
    Lafora disease is a progressive myoclonus epilepsy caused by mutations in the EPM2A or EPM2B genes that encode a glycogen phosphatase, laforin, and an E3 ubiquitin ligase, malin, respectively...
  84. 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...
  85. 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 ..
  86. 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
    ..Our work advances the understanding of Lafora disease pathogenesis and suggests that glycogen phosphorylation has important metabolic function...
  87. 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
    ....
  88. 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 ..
  89. 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...
  90. 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
    ..Two genes were identified thus far, the mutations of which cause the disease. The first one, EPM2A, encodes the consensus sequence of a protein tyrosine phosphatase...
  91. 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
  92. 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.
  93. 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
    ..We propose that autophagy plays a primary role in LD pathogenesis and is a potential target for its treatment...
  94. 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
    ..These findings suggest that GS activity and glycogen synthesis in testis could be regulated and a disruption of this process may be responsible for the apoptosis and degeneration of seminiferous tubules and possible cause of infertility...
  95. 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
    Lafora disease is a fatal, progressive myoclonus epilepsy caused in ~90% of cases by mutations in the EPM2A or EPM2B genes...
  96. 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...
  97. 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
    ..Novel observations show that exercise training does not correct diabetes-induced elevations in cardiac glycogen but, rather, precipitates further accumulation...
  98. 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...
  99. 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...

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 ..
  2. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    Matthew S Gentry; Fiscal Year: 2010
    ..The findings from all three of my specific aims can be applied to identify new therapeutic targets to treat LD and possibly other polyglucosan diseases. ..
  3. Regulation, signaling, and dynamics of glucan phosphatases.
    Matthew S Gentry; Fiscal Year: 2013
    ..objective of this grant is to elucidate the regulation, downstream signaling, and structural dynamics of the glucan phosphatase laforin...
  4. 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 ..
  5. Regulation of Hepatic Carbohydrate Metabolism by STBD1
    Alan Cheng; Fiscal Year: 2012
    ..Importantly, this can ultimately identify novel therapeutic avenues in these diseases. ' ..
  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
    ..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 ..
  8. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
    ..In 1995 we mapped the Lafora gene locus in chromosome 6q24. 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 ..
  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. 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). ..
  11. 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 ..