These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

150 related articles for article (PubMed ID: 14722920)

  • 1. Loss of function of the cytoplasmic isoform of the protein laforin (EPM2A) causes Lafora progressive myoclonus epilepsy.
    Ianzano L; Young EJ; Zhao XC; Chan EM; Rodriguez MT; Torrado MV; Scherer SW; Minassian BA
    Hum Mutat; 2004 Feb; 23(2):170-176. PubMed ID: 14722920
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Lafora disease in the Indian population: EPM2A and NHLRC1 gene mutations and their impact on subcellular localization of laforin and malin.
    Singh S; Satishchandra P; Shankar SK; Ganesh S
    Hum Mutat; 2008 Jun; 29(6):E1-12. PubMed ID: 18311786
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Modulation of functional properties of laforin phosphatase by alternative splicing reveals a novel mechanism for the EPM2A gene in Lafora progressive myoclonus epilepsy.
    Dubey D; Ganesh S
    Hum Mol Genet; 2008 Oct; 17(19):3010-20. PubMed ID: 18617530
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Laforin, the dual-phosphatase responsible for Lafora disease, interacts with R5 (PTG), a regulatory subunit of protein phosphatase-1 that enhances glycogen accumulation.
    Fernández-Sánchez ME; Criado-García O; Heath KE; García-Fojeda B; Medraño-Fernández I; Gomez-Garre P; Sanz P; Serratosa JM; Rodríguez de Córdoba S
    Hum Mol Genet; 2003 Dec; 12(23):3161-71. PubMed ID: 14532330
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.
    Ganesh S; Agarwala KL; Ueda K; Akagi T; Shoda K; Usui T; Hashikawa T; Osada H; Delgado-Escueta AV; Yamakawa K
    Hum Mol Genet; 2000 Sep; 9(15):2251-61. PubMed ID: 11001928
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Laforin is required for the functional activation of malin in endoplasmic reticulum stress resistance in neuronal cells.
    Zeng L; Wang Y; Baba O; Zheng P; Liu Y; Liu Y
    FEBS J; 2012 Jul; 279(14):2467-78. PubMed ID: 22578008
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Increased endoplasmic reticulum stress and decreased proteasomal function in lafora disease models lacking the phosphatase laforin.
    Vernia S; Rubio T; Heredia M; Rodríguez de Córdoba S; Sanz P
    PLoS One; 2009 Jun; 4(6):e5907. PubMed ID: 19529779
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Lafora progressive myoclonus epilepsy: NHLRC1 mutations affect glycogen metabolism.
    Couarch P; Vernia S; Gourfinkel-An I; Lesca G; Gataullina S; Fedirko E; Trouillard O; Depienne C; Dulac O; Steschenko D; Leguern E; Sanz P; Baulac S
    J Mol Med (Berl); 2011 Sep; 89(9):915-25. PubMed ID: 21505799
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Targeted disruption of the Epm2a gene causes formation of Lafora inclusion bodies, neurodegeneration, ataxia, myoclonus epilepsy and impaired behavioral response in mice.
    Ganesh S; Delgado-Escueta AV; Sakamoto T; Avila MR; Machado-Salas J; Hoshii Y; Akagi T; Gomi H; Suzuki T; Amano K; Agarwala KL; Hasegawa Y; Bai DS; Ishihara T; Hashikawa T; Itohara S; Cornford EM; Niki H; Yamakawa K
    Hum Mol Genet; 2002 May; 11(11):1251-62. PubMed ID: 12019206
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
    Ganesh S; Delgado-Escueta AV; Suzuki T; Francheschetti S; Riggio C; Avanzini G; Rabinowicz A; Bohlega S; Bailey J; Alonso ME; Rasmussen A; Thomson AE; Ochoa A; Prado AJ; Medina MT; Yamakawa K
    Hum Mol Genet; 2002 May; 11(11):1263-71. PubMed ID: 12019207
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
    Wang J; Stuckey JA; Wishart MJ; Dixon JE
    J Biol Chem; 2002 Jan; 277(4):2377-80. PubMed ID: 11739371
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Mutations in NHLRC1 cause progressive myoclonus epilepsy.
    Chan EM; Young EJ; Ianzano L; Munteanu I; Zhao X; Christopoulos CC; Avanzini G; Elia M; Ackerley CA; Jovic NJ; Bohlega S; Andermann E; Rouleau GA; Delgado-Escueta AV; Minassian BA; Scherer SW
    Nat Genet; 2003 Oct; 35(2):125-7. PubMed ID: 12958597
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation spectrum and predicted function of laforin in Lafora's progressive myoclonus epilepsy.
    Minassian BA; Ianzano L; Meloche M; Andermann E; Rouleau GA; Delgado-Escueta AV; Scherer SW
    Neurology; 2000 Aug; 55(3):341-6. PubMed ID: 10932264
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Relationship between glycogen accumulation and the laforin dual specificity phosphatase.
    Wang W; Parker GE; Skurat AV; Raben N; DePaoli-Roach AA; Roach PJ
    Biochem Biophys Res Commun; 2006 Nov; 350(3):588-92. PubMed ID: 17022935
    [TBL] [Abstract][Full Text] [Related]  

  • 15. The phosphatase activity of laforin is dispensable to rescue Epm2a-/- mice from Lafora disease.
    Gayarre J; Duran-Trío L; Criado Garcia O; Aguado C; Juana-López L; Crespo I; Knecht E; Bovolenta P; Rodríguez de Córdoba S
    Brain; 2014 Mar; 137(Pt 3):806-18. PubMed ID: 24430976
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Identification and characterization of novel splice variants of the human EPM2A gene mutated in Lafora progressive myoclonus epilepsy.
    Dubey D; Parihar R; Ganesh S
    Genomics; 2012 Jan; 99(1):36-43. PubMed ID: 22036712
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Hyperphosphorylation and aggregation of Tau in laforin-deficient mice, an animal model for Lafora disease.
    Puri R; Suzuki T; Yamakawa K; Ganesh S
    J Biol Chem; 2009 Aug; 284(34):22657-63. PubMed ID: 19542233
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The carbohydrate-binding domain of Lafora disease protein targets Lafora polyglucosan bodies.
    Ganesh S; Tsurutani N; Suzuki T; Hoshii Y; Ishihara T; Delgado-Escueta AV; Yamakawa K
    Biochem Biophys Res Commun; 2004 Jan; 313(4):1101-9. PubMed ID: 14706656
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Laforin preferentially binds the neurotoxic starch-like polyglucosans, which form in its absence in progressive myoclonus epilepsy.
    Chan EM; Ackerley CA; Lohi H; Ianzano L; Cortez MA; Shannon P; Scherer SW; Minassian BA
    Hum Mol Genet; 2004 Jun; 13(11):1117-29. PubMed ID: 15102711
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
    Gómez-Garre P; Sanz Y; Rodríguez De Córdoba SR; Serratosa JM
    Eur J Hum Genet; 2000 Dec; 8(12):946-54. PubMed ID: 11175283
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.