NHLRC1

Summary

Gene Symbol: NHLRC1
Description: NHL repeat containing E3 ubiquitin protein ligase 1
Alias: EPM2A, EPM2B, MALIN, bA204B7.2, E3 ubiquitin-protein ligase NHLRC1, NHL repeat containing 1, NHL repeat-containing protein 1, RING-type E3 ubiquitin transferase NHLRC1
Species: human

Top Publications

  1. 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
  2. ncbi Lafora disease due to EPM2B mutations: a clinical and genetic study
    C Gomez-Abad
    Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 64:982-6. 2005
  3. 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
  4. 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
  5. pmc Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy
    S Singh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Med Genet 43:e48. 2006
  6. 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
  7. 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
  8. 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
  9. 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
  10. doi Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate
    Julie Turnbull
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto Canada
    J Child Neurol 23:240-2. 2008

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. ABNORMALITIES OF CARDIAC GLYCOGEN METABOLISM
    Peter J Roach; Fiscal Year: 2012
  6. Regulation of Hepatic Carbohydrate Metabolism by STBD1
    Alan Cheng; Fiscal Year: 2012
  7. Blood-brain barrier gene delivery in knock-out mice.
    EAIN CORNFORD; Fiscal Year: 2005
  8. VACCINATION FOR TREATMENT OF NICTOTINE DEPENDENCE
    Ali Fattom; Fiscal Year: 2003
  9. Lafora's Progressive Myoclonus Epilepsy
    Antonio Delgado Escueta; Fiscal Year: 2003
  10. STRUCTURE AND REGULATION OF TYPE 1 PROTEIN PHOSPHATASES
    Anna DePaoli Roach; Fiscal Year: 2004

Scientific Experts

Detail Information

Publications145 found, 100 shown here

  1. 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
    ..Here, we identify a second gene associated with this disease, NHLRC1 (also called EPM2B), which encodes malin, a putative E3 ubiquitin ligase with a RING finger domain and six NHL ..
  2. ncbi Lafora disease due to EPM2B mutations: a clinical and genetic study
    C Gomez-Abad
    Neurology Service, Fundacion Jimenez Diaz, Madrid, Spain
    Neurology 64:982-6. 2005
    To study EPM2B gene mutations and genotype-phenotype correlations in patients with Lafora disease.
  3. 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
    ..a dual-specificity phosphatase, known as laforin, or a recently identified gene encoding the protein known as malin. Here, we demonstrate that malin is a single subunit E3 ubiquitin (Ub) ligase and that its RING domain is ..
  4. 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...
  5. pmc Novel NHLRC1 mutations and genotype-phenotype correlations in patients with Lafora's progressive myoclonic epilepsy
    S Singh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Med Genet 43:e48. 2006
    ..Mutations in two genes, EPM2A and NHLRC1, have been shown to cause the disease...
  6. 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
    ..Laforin, a protein phosphatase, and malin, an ubiquitin ligase, are two of the proteins that are known to be defective in LD...
  7. 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
    ..Furthermore, the E3 ubiquitin ligase Malin interacts with and promotes the ubiquitination of AGL...
  8. 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 ..
  9. 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...
  10. doi Lafora progressive myoclonus epilepsy: disease course homogeneity in a genetic isolate
    Julie Turnbull
    Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto Canada
    J Child Neurol 23:240-2. 2008
    ..The authors show that in this homogeneous environment and gene pool, the same mutation, EPM2B-c.468-469delAG, results in highly uniform ages of onset (14 years) and death (21 years)...
  11. 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
    ..Laforin, a protein phosphatase, and malin, an E3 ubiquitin ligase, are two of the proteins that are defective in LD...
  12. doi Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes
    Shweta Singh
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Hum Mutat 30:715-23. 2009
    ..The two genes known to be associated with LD are EPM2A and NHLRC1. Mutations in at least one other as yet unknown gene also cause LD...
  13. 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
    ..EPM2A gene, encoding the dual specificity phosphatase laforin, or the EPM2B gene, encoding the E3-ubiquitin ligase malin. Previously, we and others have shown that both proteins form a functional complex that regulates glycogen ..
  14. pmc Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease
    Sudheendra N R Rao
    Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre, Manesar, Gurgaon 122 050, India
    J Biol Chem 285:1404-13. 2010
    ..disorder caused by mutation in either the dual specificity phosphatase laforin or ubiquitin ligase malin. A pathological hallmark of LD is the accumulation of cytoplasmic polyglucosan inclusions commonly known as Lafora ..
  15. pmc The laforin-malin complex, involved in Lafora disease, promotes the incorporation of K63-linked ubiquitin chains into AMP-activated protein kinase beta subunits
    Daniel Moreno
    Instituto de Biomedicina de Valencia, Consejo Superior de Investigaciones Cientificas and Centro de Investigación Biomédica en Red de Enfermedades Raras, 46010 Valencia, Spain
    Mol Biol Cell 21:2578-88. 2010
    ..caused by defects in the function of at least two proteins: laforin, a dual-specificity protein phosphatase, and malin, an E3-ubiquitin ligase...
  16. 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
    ..epilepsy with onset in childhood or adolescence and with fatal outcome caused by mutations in two genes: EPM2A and NHLRC1. The aim of this study was to characterize the mutation spectrum in a cohort of unrelated patients with presumed LD...
  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 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...
  19. 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)...
  20. 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...
  21. 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...
  22. 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
    ..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 called malin...
  23. doi Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy
    Deepti Dubey
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur, India
    Hum Mol Genet 17:3010-20. 2008
    The EPM2A gene, encoding the dual-phosphatase laforin, is mutated in a fatal form of progressive myoclonus epilepsy known as Lafora disease (LD)...
  24. ncbi Identification of a novel protein interacting with laforin, the EPM2a progressive myoclonus epilepsy gene product
    Leonarda Ianzano
    Department of Genetics, The Hospital for Sick Children, Toronto, Ontario M5G 1X8, Canada
    Genomics 81:579-87. 2003
    ..interacting partner protein (encoded by the human EPM2AIP1 gene (approved symbol)) for laforin, the product of the EPM2A gene, which is mutated in an autosomal recessive form of adolescent progressive myoclonus epilepsy...
  25. 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...
  26. 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...
  27. 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, ..
  28. 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...
  29. ncbi Bioptically demonstrated Lafora disease without EPM2A mutation: a clinical and neurophysiological study of two sisters
    P Boccella
    Epilepsy Center, Department of Neurological Sciences, Federico II University, Naples, Italy
    Clin Neurol Neurosurg 106:55-9. 2003
    ..LD gene (EPM2A), mapping on chromosome 6, encodes for a tyrosine phosphatase protein called laforin...
  30. 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) ..
  31. 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...
  32. 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...
  33. ncbi Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase
    B A Minassian
    Department of Paediatrics, The Hospital for Sick Children, The University of Toronto, Ontario, Canada
    Ann Neurol 49:271-5. 2001
    ..Here we report that the protein encoded by the EPM2A gene, which is mutated in LD, localizes at the plasma membrane and the endoplasmic reticulum and that it is a ..
  34. ncbi Specific learning disabilities in children: deficits and neuropsychological profile
    Adarsh Kohli
    Department of Psychiatry, Postgraduate Institute of Medical Education and Research, Chandigarh 160 012, India
    Int J Rehabil Res 28:165-9. 2005
    ..of the PGIMER memory scale for children, the Wisconsin card sorting test, the Bender visuo-motor gestalt test and Malin's intelligence scale for Indian children...
  35. doi The effects of palm kernel cake based diet on spermatogenesis in Malin x Santa-Ines rams
    H Yaakub
    Department of Animal Science, Faculty of Agriculture, Selangor, Malaysia
    Anim Reprod Sci 115:182-8. 2009
    Testes from nine male Malin x Santa-Ines rams with an average body weight of 43.1+/-3...
  36. 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...
  37. doi Aetiology of intellectual disability in paediatric outpatients in Northern India
    Prashant Jauhari
    Department of Paediatrics, Chhatrapati Shahuji Maharaj Medical University, Lucknow, India
    Dev Med Child Neurol 53:167-72. 2011
    ..To study the aetiology of intellectual disability in patients presenting to hospital and the diagnostic yield of a standardized examination...
  38. ncbi Developing constraints on the relative sea-level curve for the northeast of Ireland from the mid-Holocene to the present day
    Julian D Orford
    School of Geography, Archaeology and Palaeoecology, Queen s University, Belfast BT7 1NN, UK
    Philos Trans A Math Phys Eng Sci 364:857-66. 2006
    ..the north of Ireland have been digitized to generate annual estimates of both mean-sea-level (MSL) position from Malin Head (1958-1998), and mean tidal level (MTL) from Belfast Harbour (1918-2002)...
  39. 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...
  40. 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 ..
  41. 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
  42. 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...
  43. ncbi Late-onset and slow-progressing Lafora disease in four siblings with EPM2B mutation
    Betul Baykan
    Department of Neurology, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Epilepsia 46:1695-7. 2005
    ..Genetic study revealed the homozygous mutation D146N in the EPM2B gene. We suggest that this mutation may be associated with a less severe LD phenotype.
  44. 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. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ..
  45. 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...
  46. 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...
  47. ncbi Mechanism suppressing glycogen synthesis in neurons and its demise in progressive myoclonus epilepsy
    David Vilchez
    Institute for Research in Biomedicine and University of Barcelona, Barcelona Science Park, Josep Samitier 1 5, E 08028 Barcelona, Spain
    Nat Neurosci 10:1407-13. 2007
    ..This suppression was further ensured by a complex of laforin and malin, which are the two proteins whose mutations cause Lafora disease...
  48. 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 ..
  49. 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
    ..severe myoclonic epilepsy of infancy (SMEI and SMEB); (2) laforin (dual specificity protein phosphatase) and malin (ubiquitin E3 ligase) in Lafora progressive myoclonic epilepsy (PME); and (3) cystatin B in Unverricht-Lundborg ..
  50. pmc Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease
    Rajat Puri
    Department of Biological Sciences and Bioengineering, Indian Institute of Technology, Kanpur 208016, India
    J Biol Chem 284:22657-63. 2009
    Lafora progressive myoclonous epilepsy (Lafora disease; LD) is caused by mutations in the EPM2A gene encoding a dual specificity protein phosphatase named laforin...
  51. pmc Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism
    Philippe Couarch
    Inserm UMRS_975, Hopital de la Pitie Salpetriere, 75013 Paris, France
    J Mol Med (Berl) 89:915-25. 2011
    ..The two genes known to be involved in Lafora disease are EPM2A and NHLRC1 (EPM2B)...
  52. pmc [Malignant schwannoma of the sciatic nerve in a child]
    Maryem Lechqar
    Service de Traumatologie Orthopédie Pédiatrique CHU Hassan II, Fes, Maroc
    Pan Afr Med J 12:110. 2012
    Le schwannome malin est une tumeur très rare chez l'enfant (1 à 2% des tumeurs des tissus mous), elle se développe au dépend des cellules de schwanne...
  53. 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
    ..Binding of R6 to laforin allows the ubiquitination of R6 by the E3-ubiquitin ligase malin, what targets R6 for autophagic degradation...
  54. pmc Dimerization of the glucan phosphatase laforin requires the participation of cysteine 329
    Pablo Sánchez-Martín
    Instituto de Biomedicina de Valencia, CSIC and Centro de Investigación Biomédica en Red de Enfermedades Raras, Valencia, Spain
    PLoS ONE 8:e69523. 2013
    ..laforin-Cys329Ser was fully capable of participating in the ubiquitination process driven by a laforin-malin complex...
  55. 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...
  56. doi Mild Lafora disease: clinical, neurophysiologic, and genetic findings
    Edoardo Ferlazzo
    Magna Graecia University of Catanzaro, Catanzaro, Italy Regional Epilepsy Center, Bianchi Melacrino Morelli Hospital, Reggio Calabria, Italy
    Epilepsia 55:e129-33. 2014
    ..5 ± 3.9 years and mean follow-up duration was 13.2 ± 8.0 years. NHLRC1 mutations were detected in 18 patients; EPM2A mutations were identified in 5...
  57. pmc A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy
    Mikko Muona
    1 Institute for Molecular Medicine Finland, University of Helsinki, Helsinki, Finland 2 Folkhälsan Institute of Genetics, Helsinki, Finland 3 Neuroscience Center, University of Helsinki, Helsinki, Finland 4 Research Programs Unit, Molecular Neurology, University of Helsinki, Helsinki, Finland
    Nat Genet 47:39-46. 2015
    ..Ten cases had pathogenic mutations in known PME-associated genes (NEU1, NHLRC1, AFG3L2, EPM2A, CLN6 and SERPINI1)...
  58. 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...
  59. doi Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease
    Arnaud Berthier
    Instituto de Biomedicina de Valencia CSIC, Centro de Investigación Biomédica en Red de Enfermedades Raras CIBERER, Jaime Roig 11, 46010, Valencia, Spain
    Mol Neurobiol 53:1296-309. 2016
    ..Mouse models lacking functional EPM2A or EPM2B genes (the two major loci related to the disease) recapitulate the Lafora disease phenotype: they accumulate ..
  60. 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...
  61. doi Brain glycogen in health and disease
    Jordi Duran
    Institute for Research in Biomedicine IRB Barcelona, The Barcelona Institute of Science and Technology, Barcelona, Spain Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas CIBERDEM, Spain
    Mol Aspects Med 46:70-7. 2015
    ..Loss-of-function mutations in laforin and malin cause Lafora disease...
  62. 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
    ..inclusions called Lafora bodies and caused, in the vast majority of cases, by mutations in either EPM2A or EPM2B genes, encoding respectively laforin and malin...
  63. doi P-068: An adrenocortical carcinoma revealed by hypertension
    G Saad
    Service Endocrinologie et Diabétologie CHU Farhat Hached, Sousse, Tunisie
    Ann Cardiol Angeiol (Paris) 64:S46. 2015
    ..Le patient a eu une exérèse de la masse et une thrombectomie. L'examen anatomopathologique conclu à un corticosurré-nalome malin.
  64. ncbi Lafora disease
    Julie Turnbull
    Program in Genetics and Genome Biology and Division of Neurology, Department of Paediatrics, The Hospital for Sick Children and the University of Toronto, Canada
    Epileptic Disord 18:38-62. 2016
    ..LD) is an autosomal recessive progressive myoclonus epilepsy due to mutations in the EPM2A (laforin) and EPM2B (malin) genes, with no substantial genotype-phenotype differences between the two...
  65. doi PTG protein depletion rescues malin-deficient Lafora disease in mouse
    Julie Turnbull
    Program in Genetics and Genome Biology, University of Toronto, Toronto, Ontario, Canada
    Ann Neurol 75:442-6. 2014
    Ubiquitin ligases regulate quantities and activities of target proteins, often pleiotropically. The malin ubiquitin E3 ligase is reported to regulate autophagy, the misfolded protein response, microRNA silencing, Wnt signaling, ..
  66. 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...
  67. 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
    ..by mutations in the EPM2A or EPM2B genes that encode a glycogen phosphatase, laforin, and an E3 ubiquitin ligase, malin, respectively...
  68. ncbi Isolation and characterization of mouse homologue for the human epilepsy gene, EPM2A
    S Ganesh
    Brain Science Institute, Institute of Physical and Chemical Research RIKEN, 2 1 Hirosawa, Wako Shi, Saitama, 351 0198, Japan
    Biochem Biophys Res Commun 257:24-8. 1999
    Mutations in the novel gene, EPM2A, have been shown recently to cause the progressive myoclonus epilepsy of Lafora type...
  69. ncbi Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, Wako Shi, Saitama, Japan
    Hum Mol Genet 11:1251-62. 2002
    Mutations in the EPM2A gene encoding a dual-specificity phosphatase (laforin) cause Lafora disease (LD), a progressive and invariably fatal epilepsy with periodic acid-Schiff-positive (PAS+) cytoplasmic inclusions (Lafora bodies) in the ..
  70. ncbi 'Tako-Tsubo cardiomyopathy' associated with syndrome malin: reversible left ventricular dysfunction
    Mihoko Kawabata
    Department of Cardiology, Bokutou Metropolitan Hospital, Tokyo, Japan
    Circ J 67:721-4. 2003
    ..His muscular enzyme levels were very high, so he was diagnosed with incomplete syndrome malin and given hydration therapy...
  71. ncbi Unusual presentation of Lafora's disease
    Suad F Al Otaibi
    Department of Paediatrics, Hospital for Sick Children, Toronto, Ontario
    J Child Neurol 18:499-501. 2003
    ..We present the case of a 16-year-old with precipitous dementia within 6 months of onset. Peripheral biopsies and EPM2A mutation analysis were negative. The diagnosis could be established only by brain biopsy.
  72. pmc Genetic mapping of a new Lafora progressive myoclonus epilepsy locus (EPM2B) on 6p22
    E M Chan
    Program in Genetics and Genomic Biology, The Hospital for Sick Children and Department of Molecular and Medical Genetics, The University of Toronto, 555 University Ave, Toronto, Ontario M5G 1X8, Canada
    J Med Genet 40:671-5. 2003
    ..It causes severe seizures, leading to dementia and eventually death in early adulthood...
  73. 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...
  74. ncbi Preoperative visiting: landmarks of the journey
    Jill Holmes
    Eye and Ear, Nose and Throat Recovery, Queen s Medical Centre, Nottingham
    Br J Perioper Nurs 15:434, 436-7, 439-40 passim. 2005
    ..These initiatives aim to give continuity of care, reduce stress and anxiety, and promote patients' coping strategies, by increasing the patients' knowledge and understanding of their perioperative journey (Malin & Teasdale 1991).
  75. 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...
  76. 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.
  77. 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...
  78. 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
  79. ncbi Gene symbol: EPM2A
    Maria J Trujillo-Tiebas
    Fundacion Jimenez Diaz, Department of Genetics, Av Reyes Católicos, 2, 28040, Madrid, Spain
    Hum Genet 121:290. 2007
  80. doi Glycogen hyperphosphorylation underlies lafora body formation
    Julie Turnbull
    Department of Genetics and Genome Biology, Hospital for Sick Children, Toronto, Ontario, Canada
    Ann Neurol 68:925-33. 2010
    ..Lafora disease is caused by deficiency of either the laforin glycogen phosphatase or the malin E3 ubiquitin ligase...
  81. doi Cancers cutanés fréquemment rencontrés à l'hôpital universitaire de Calabar, à Calabar, dans le sud du Nigéria
    Maurice Efana Asuquo
    Service de Chirurgie, Hôpital Universitaire de Calabar, Calabar, Nigeria Service de Pathologie, Hôpital Universitaire de Calabar, Calabar, Nigeria
    Int J Dermatol 51:36-40. 2012
    ..9%). Les autres cancers cutanés diagnostiqués pendant cette période étaient le mélanome malin (MM; n = 16; 9.9%), le dermatofibrosarcome protubérant (DFSP ; n = 11; 6...
  82. doi Muscle glycogen synthase isoform is responsible for testicular glycogen synthesis: glycogen overproduction induces apoptosis in male germ cells
    Franz Villarroel-Espíndola
    Instituto de Bioquímica y Microbiología, Universidad Austral de Chile, Valdivia, Chile
    J Cell Biochem 114:1653-64. 2013
    ..Using RT-PCR, we have also shown that malin and laforin are expressed in testis, key enzymes for regulation of GS activity...
  83. doi Progressive myoclonus epilepsy
    Jean Marie Girard
    Division of Neurology, Department of Paediatrics, Hospital for Sick Children and University of Toronto, Toronto, Canada
    Handb Clin Neurol 113:1731-6. 2013
    ..genes of yet unknown function, one encoding a glycogen phosphatase (laforin) and the other an ubiquitin E3 ligase (malin)...
  84. 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
    Laforin or malin deficiency causes Lafora disease, characterized by altered glycogen metabolism and teenage-onset neurodegeneration with intractable and invariably fatal epilepsy...
  85. pmc Early-onset Lafora body disease
    Julie Turnbull
    Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada
    Brain 135:2684-98. 2012
    ..Lafora disease is caused by mutations in the EPM2A or EPM2B genes, encoding the laforin phosphatase and the malin ubiquitin ligase, respectively, two cytoplasmically active enzymes that regulate glycogen construction, ensuring ..
  86. pmc [Primitive non-Hodgkin lymphoma of the thyroid: about seven cases]
    Hanane Chenna
    Service de Radiotherapie, institut national d oncologie de Rabat, BP 6213 Rabat, Maroc
    Pan Afr Med J 12:79. 2012
    ..Le diagnostic histopathologique avec l'immunomarquage après chirurgie a conclu dans tous les cas à un lymphome malin non hodgkinien : 3 patientes avec un lymphome de type MALT, et les 4 autres avec un LMNH à grandes cellules de ph..
  87. 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
    ..Lafora bodies (LBs), is caused by recessive loss-of-function mutations in the genes encoding either laforin or malin. Previous studies suggested a role of these proteins in regulating glycogen biosynthesis, in glycogen ..
  88. pmc [Malignant paraganglioma of the orbit, a case report]
    Idriss Benatiya Andaloussi
    CHU Hassan II, Fes
    Pan Afr Med J 12:37. 2012
    ..Cet aspect est en faveur d'un paragangliome malin. Une exérèse chirurgicale incomplète suivie d'une radiothérapie adjuvante, sont alors réalisés...
  89. 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
    ..expressed in cell lines, show distinct subcellular localization, interact with and serve as substrates of malin ubiquitin ligase-the second protein defective in LD...
  90. 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
    ..Echocardiography showed no defects of cardiac function in Epm2a-/- or Epm2b-/- mice. We conclude that laforin and malin have no effect on whole-body glucose metabolism and insulin sensitivity, and that laforin is not involved in ..
  91. 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
    ..of intracellular inclusions called Lafora bodies (LBs), is caused by loss-of-function mutations in laforin or malin. Previous studies suggested a role of these proteins in the regulation of glycogen biosynthesis, in glycogen ..
  92. pmc Malin regulates Wnt signaling pathway through degradation of dishevelled2
    Jaiprakash Sharma
    Cellular and Molecular Neuroscience Laboratory, National Brain Research Centre, Manesar, Gurgaon 122 050, India
    J Biol Chem 287:6830-9. 2012
    ..hybrid screening followed by co-immunoprecipitation assay, we have found that the Lafora disease ubiquitin ligase malin interacts with dishevelled2, a key mediator of Wnt signaling pathway...
  93. pmc Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders
    Patrícia Bs Celestino-Soper
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
    Mol Cytogenet 5:17. 2012
    ..The deletion found in the SCAP patient harbors ATXN1, DTNBP1, JARID2, and NHLRC1 that we propose may be responsible for ASDs and developmental delay.
  94. doi Laforin and malin deletions in mice produce similar neurologic impairments
    Ana M Garcia-Cabrero
    Laboratory of Neurology, Instituto Investigación Sanitaria Fundación Jiménez Díaz, Madrid, Spain
    J Neuropathol Exp Neurol 71:413-21. 2012
    ..myoclonus epilepsy caused by mutations in the EPM2A gene encoding laforin or in the EPM2B gene encoding malin. It is characterized by the presence of polyglucosan intracellular inclusion bodies (Lafora bodies) in brain and ..
  95. pmc [[Primary pulmonary Non-Hodgkin's lymphoma: report of a case]]
    Aziz Ouarssani
    Service de Pneumologie, hôpital militaire Moulay Ismail, Meknes, Maroc
    Pan Afr Med J 11:56. 2012
    Le lymphome pulmonaire primitif (LPP) est rare, représente 3 à 4% des lymphomes malin non hodgkinien (LMNH) extra ganglionnaire; moins de 1% des LMNH et seulement 0.5 à 1% des tumeurs malignes primitives du poumon...
  96. ncbi Dietary protein influences on regulation of Haemonchus contortus populations in Dorsimal lambs
    D A Israf
    Faculty of Veterinary Medicine and Animal Science, Universiti Putra Malaysia, Selangor, Malaysia
    J Helminthol 72:143-6. 1998
    ..of dietary protein supplementation upon resistance to haemonchosis was examined in Dorsimal (Polled Dorset x Malin) lambs offered two levels of protein...
  97. 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)...
  98. ncbi Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions
    P Gomez-Garre
    Servicio de Neurologia, Fundacion Jimenez Diaz, Madrid, Spain
    Eur J Hum Genet 8:946-54. 2000
    ..We recently cloned the major gene for Lafora disease (EPM2A) and characterised the corresponding product, a putative protein tyrosine phosphatase (LAFPTPase)...
  99. ncbi Mutation screening for Japanese Lafora's disease patients: identification of novel sequence variants in the coding and upstream regulatory regions of EPM2A gene
    S Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1, Hirosawa, Wako Shi, Saitama 351 0198, Japan
    Mol Cell Probes 15:281-9. 2001
    ..The progressive myoclonus epilepsy of Lafora type (LD) is an autosomal recessive disorder caused by mutations in the EPM2A gene...
  100. ncbi Alternative splicing modulates subcellular localization of laforin
    Subramaniam Ganesh
    Laboratory for Neurogenetics, RIKEN Brain Science Institute, 2 1 Hirosawa, Wako Shi, Saitama 351 0198, Japan
    Biochem Biophys Res Commun 291:1134-7. 2002
    Laforin is a dual-specificity phosphatase coded by the EPM2A gene defective in Lafora's progressive myoclonus epilepsy. We reported earlier that laforin is a cytoplasmic protein associated primarily with polyribosome...
  101. 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...

Research Grants10

  1. Molecular Pathological Mechanism & Potential Therapeutics of Lafora Disease
    YAN NONE LIU; Fiscal Year: 2010
    ..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. However, the molecular pathological cause of LD is unknown...
  2. Novel Model Systems Link Floridean Starch Metabolism to Lafora Disease
    Matthew S Gentry; Fiscal Year: 2010
    ..mutations to either of the genes that encode the dual specific phosphatase laforin or the E3 ubiquitin ligase malin. LD is one of five major progressive myoclonus epilepsies (PMEs) and presents as a single seizure in the second ..
  3. Matthew S Gentry; Fiscal Year: 2016
    ..Recessive mutations in genes encoding the E3 ubiquitin ligase malin or the dual specificity phosphatase laforin disrupt glycogen metabolism and result in a fatal, neurodegenerative ..
  4. Peter J Roach; Fiscal Year: 2016
    ..Lafora patients have generally similar clinical symptoms whether the causative mutation is in the EPM2A or EPM2B/NHLRC1 gene. All have the characteristic formation of Lafora bodies...
  5. ABNORMALITIES OF CARDIAC GLYCOGEN METABOLISM
    Peter J Roach; Fiscal Year: 2012
    ..The second mouse line is malin-/- mice, generated primarily as a model of another disorder, Lafora disease...
  6. Regulation of Hepatic Carbohydrate Metabolism by STBD1
    Alan Cheng; Fiscal Year: 2012
    ..several enzymes involved in its metabolism translocate to the nucleus and interact with the E3 ubiquitin ligase Malin for subsequent proteasomal degradation...
  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. VACCINATION FOR TREATMENT OF NICTOTINE DEPENDENCE
    Ali Fattom; Fiscal Year: 2003
    ..Fattom, Nabi, Rockville), 2) Behavioral studies of vaccination in rats (Dr. Malin, U. Houston-Clear Lake), 3) Pharmacokinetic and additional behavioral studies of vaccination in rats (Dr...
  9. 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 ..
  10. 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. ..