| 1 | EPM2A, NHLRC1
|
| Regulation of the autophagic PI3KC3 complex by laforin/malin E3-ubiquitin ligase, two proteins involved in Lafora disease.
|
| Sanchez-Martin P, Lahuerta M, Viana R, Knecht E, Sanz P.
|
| Biobiochim Biophys Acta Mol Cell Res. Feb;1867(2):118613. doi: 10.1016/j.bbamcr.2019.118613. Epub 2019 Nov 21 2020
|
| 2 | EPM2A, NHLRC1
|
| Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora disease.
|
| Nitschke F, Sullivan MA, Wang P, Zhao X, Chown EE, Perri AM, Israelian L, Juana-López L, Bovolenta P, Rodríguez de Córdoba S, Steup M, Minassian BA.
|
| EMBO Mol Med. Jul;9(7):906-917. doi: 10.15252/emmm.201707608 2017
|
| 3 | EPM2A, EPM2B, NHLRC1
|
| Oxidative stress, a new hallmark in the pathophysiology of Lafora progressive myoclonus epilepsy.
|
| Romá-Mateo C, Aguado C, García-Giménez JL, Knecht E, Sanz P, Pallardó FV.
|
| Free Radic Biol Med. Nov;88(Pt A):30-41. doi: 10.1016/j.freeradbiomed.2015.01.034. Epub 2015 Feb 10. 2015
|
| 4 | EPM2A, NHLRC1
|
| Loss of GABAergic cortical neurons underlies the neuropathology of Lafora disease.
|
| Ortolano S, Vieitez I, Agis-Balboa RC, Spuch C.
|
| Mol Brain. Jan 28;7:7. doi: 10.1186/1756-6606-7-7. 2014
|
| 5 | EPM2A, NHLRC1
|
| The laforin-malin complex negatively regulates glycogen synthesis by modulating cellular glucose uptake via glucose transporters.
|
| Singh PK, Singh S, Ganesh S.
|
| Mol Cell Biol 32(3):652-63. doi: 10.1128/MCB.06353-11. Epub 2011 Nov 28.
2012
|
| 6 | EPM2A, NHLRC1
|
| 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 279(14):2467-78. doi: 10.1111/j.1742-4658.2012.08627.x. Epub 2012 Jun 8.
2012
|
| 7 | EPM2A, EPM2B, NHLRC1
|
| Four novel and two recurrent NHLRC1 (EPM2B) and EPM2A gene mutations leading to Lafora disease in six Turkish families.
|
| Salar S, Yeni N, Gündüz A, Güler A, Gökçay A, Velioğlu S, Gündoğdu A, Hande Çağlayan S.
|
| Epilepsy Res 98(2-3):273-6. doi: 10.1016/j.eplepsyres.2011.09.020. Epub 2011 Nov 1.
2012
|
| 8 | EPM2A
|
| 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 99(1):36-43. doi: 10.1016/j.ygeno.2011.10.001. Epub 2011 Oct 19.
2012
|
| 9 | EPM2A, EPM2B, NHLRC1
|
| Increased laforin and laforin binding to glycogen underlie Lafora body formation in malin-deficient Lafora disease.
|
| Tiberia E, Turnbull J, Wang T, Ruggieri A, Zhao XC, Pencea N, Israelian J, Wang Y, Ackerley CA, Wang P, Liu Y, Minassian BA.
|
| J Biol Chem 287(30):25650-9. doi: 10.1074/jbc.M111.331611. Epub 2012 Jun 5.
2012
|
| 10 | EPM2A
|
| Laforin, a dual specificity phosphatase involved in Lafora disease, is present mainly as monomeric form with full phosphatase activity.
|
| Dukhande VV, Rogers DM, Romá-Mateo C, Donderis J, Marina A, Taylor AO, Sanz P, Gentry MS.
|
| PLoS One 6(8):e24040. Epub 2011 Aug 26.
2011
|
| 11 | EPM2A
|
| Are there errors in glycogen biosynthesis and is laforin a repair enzyme?
|
| Roach PJ.
|
| FEBS Lett 585(20):3216-8. Epub 2011 Sep 16. Review.
2011
|
| 12 | EPM2A
|
| Phosphate incorporation during glycogen synthesis and Lafora disease.
|
| Tagliabracci VS, Heiss C, Karthik C, Contreras CJ, Glushka J, Ishihara M, Azadi P, Hurley TD, DePaoli-Roach AA, Roach PJ.
|
| Cell Metab 13(3):274-82.
2011
|
| 13 | EPM2A
|
| Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice.
|
| Vernia S, Heredia M, Criado O, Rodriguez de Cordoba S, Garcia-Roves PM, Cansell C, Denis R, Luquet S, Foufelle F, Ferre P, Sanz P.
|
| Hum Mol Genet 20(13):2571-84. Epub 2011 Apr 14.
2011
|
| 14 | EPM2A
|
| Laforin, a dual-specificity phosphatase involved in Lafora disease, is phosphorylated at Ser25 by AMP-activated protein kinase.
|
| Romá-Mateo C, Solaz-Fuster Mdel C, Gimeno-Alcañiz JV, Dukhande VV, Donderis J, Worby CA, Marina A, Criado O, Koller A, Rodriguez De Cordoba S, Gentry MS, Sanz P.
|
| Biochem J 439(2):265-75.
2011
|
| 15 | EPM2A, NHLRC1, NNAT
|
| Lafora disease ubiquitin ligase malin promotes proteasomal degradation of neuronatin and regulates glycogen synthesis.
|
| Sharma J, Rao SN, Shankar SK, Satishchandra P, Jana NR.
|
| Neurobiol Dis 44(1):133-41. doi: 10.1016/j.nbd.2011.06.013. Epub 2011 Jun 25. 2011
|
| 16 | EPM2A
|
| Laforin, the most common protein mutated in Lafora disease, regulates autophagy.
|
| Aguado C, Sarkar S, Korolchuk VI, Criado O, Vernia S, Boya P, Sanz P, de Córdoba SR, Knecht E, Rubinsztein DC.
|
| Hum Mol Genet 19(14):2867-76. Epub 2010 May 7.PMID: 20453062 2010
|
| 17 | EPM2A, EPM2B, HSPA8
|
| Sequestration of chaperones and proteasome into Lafora bodies and proteasomal dysfunction induced by Lafora disease-associated mutations of malin.
|
| Rao SN, Maity R, Sharma J, Dey P, Shankar SK, Satishchandra P, Jana NR.
|
| Hum Mol Genet 19(23):4726-34. Epub 2010 Sep 21.
2010
|
| 18 | EPM2A, NHLRC1
|
| The malin-laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin-proteasome system.
|
| Garyali P, Siwach P, Singh PK, Puri R, Mittal S, Sengupta S, Parihar R, Ganesh S.
|
| Hum Mol Genet 18(4):688-700. Epub 2008 Nov 25.
2009
|
| 19 | EPM2A, EPM2B, NHLRC1
|
| Lafora progressive myoclonus epilepsy: a meta-analysis of reported mutations in the first decade following the discovery of the EPM2A and NHLRC1 genes.
|
| Singh S, Ganesh S.
|
| Hum Mutat 30(5):715-23. Review.
2009
|
| 20 | EPM2A
|
| Deletions and missense mutations of EPM2A exacerbate unfolded protein response and apoptosis of neuronal cells induced by endoplasm reticulum stress.
|
| Liu Y, Wang Y, Wu C, Liu Y, Zheng P.
|
| Hum Mol Genet 18(14):2622-31. Epub 2009 Apr 29.
2009
|
| 21 | EPM2A, NHLRC1
|
| 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 17(19):3010-20. Epub 2008 Jul 10.
2008
|
| 22 | EPM2A, EPM2B, NHLRC1
|
| Abnormal metabolism of glycogen phosphate as a cause for Lafora disease.
|
| Tagliabracci VS, Girard JM, Segvich D, Meyer C, Turnbull J, Zhao X, Minassian BA, Depaoli-Roach AA, Roach PJ.
|
| J Biol Chem 283(49):33816-25. Epub 2008 Oct 13.
2008
|
| 23 | EPM2A, NHLRC1, EPM2B
|
| Lafora disease proteins malin and laforin are recruited to aggresomes in response to proteasomal impairment.
|
| Mittal S, Dubey D, Yamakawa K, Ganesh S.
|
| Hum Mol Genet 16(7):753-62. Epub 2007 Mar 2. 2007
|
| 24 | EPM2A
|
| Laforin is a glycogen phosphatase, deficiency of which leads to elevated phosphorylation of glycogen in vivo.
|
| Tagliabracci VS, Turnbull J, Wang W, Girard JM, Zhao X, Skurat AV, Delgado-Escueta AV, Minassian BA, Depaoli-Roach AA, Roach PJ.
|
| Proc Natl Acad Sci U S A 104(49):19262-6. Epub 2007 Nov 26. 2007
|
| 25 | EPM2A
|
| Laforin, a dual specificity phosphatase that dephosphorylates complex carbohydrates.
|
| Worby CA, Gentry MS, Dixon JE.
|
| J Biol Chem 281(41):30412-8. Epub 2006 Aug 10. 2006
|
| 26 | EPM2A
|
| Molecular characterization of laforin, a dual-specificity protein phosphatase implicated in Lafora disease.
|
| Girard JM, Lê KH, Lederer F.
|
| Biochimie 88(12):1961-71. Epub 2006 Sep 14.
2006
|
| 27 | EPM2A, GYS1, GYS2, NHLRC1, EPM2B, GSK3A, GSK3B
|
| Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.
|
| Lohi H, Ianzano L, Zhao XC, Chan EM, Turnbull J, Scherer SW, Ackerley CA, Minassian BA.
|
| Hum Mol Genet 14(18):2727-36. Epub 2005 Aug 22. 2005
|
| 28 | EPM2A
|
| 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 23(2):170-6. 2004
|
| 29 | EPM2A,EPM2AIP1,NFU1,NHLRC1
|
| 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 13(11):1117-29. Epub 2004 Apr 21. 2004
|
| 30 | EPM2A
|
| 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 313(4):1101-9. 2004
|
| 31 | EPM2A,NFU1
|
| The Lafora disease gene product laforin interacts with HIRIP5, a phylogenetically conserved protein containing a NifU-like domain.
|
| Ganesh S, Tsurutani N, Suzuki T, Ueda K, Agarwala KL, Osada H, Delgado-Escueta AV, Yamakawa K.
|
| Hum Mol Genet 12(18):2359-68. Epub 2003 Jul 29. 2003
|
| 32 | EPM2A
|
| 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 11(11):1263-71. 2002
|
| 33 | EPM2A
|
| A unique carbohydrate binding domain targets the lafora disease phosphatase to glycogen.
|
| Wang J, Stuckey JA, Wishart MJ, Dixon JE.
|
| J Biol Chem 277(4):2377-80. Epub 2001 Dec 05. 2002
|
| 34 | EPM2A
|
| Laforin is a cell membrane and endoplasmic reticulum-associated protein tyrosine phosphatase.
|
| Minassian BA, Andrade DM, Ianzano L, Young EJ, Chan E, Ackerley CA, Scherer SW.
|
| Ann Neurol 49(2):271-5. 2001
|
| 35 | EPM2A
|
| Identification of new and common mutations in the EPM2A gene in Lafora disease.
|
| Minassian BA, Ianzano L, Delgado-Escueta AV, Scherer SW.
|
| Neurology 54(2):488-90. 2000
|
| 36 | EPM2A
|
| 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 9(15):2251-61. 2000
|
| 37 | EPM2A
|
| 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 55(3):341-6. 2000
|
| 38 | EPM2A
|
| Mutational spectrum of the EPM2A gene in progressive myoclonus epilepsy of Lafora: high degree of allelic heterogeneity and prevalence of deletions.
|
| Gomez-Garre P, Sanz Y, Rodriguez De Cordoba SR, Serratosa JM.
|
| Eur J Hum Genet 8(12):946-54. 2000
|
| 39 | EPM2A
|
| A novel protein tyrosine phosphatase gene is mutated in progressive mycolonus epilepsy of the fafora type (EPM2).
|
| Serratosa JM, et al.
|
| Hum Mol Genet 8 : 345-352. 1999
|
| 40 | EPM2A
|
| Reduction of the Lafora disease candidate gene region to a 2 cM interval in chromosome 6q24 and evidence for genetic heterogeneity. (abstr)
|
| Gomez-Garre P, et al.
|
| Eur J Hum Genet 6 : P4198. 1998
|
| 41 | EPM2A
|
| Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
|
| Minassian BA, et al.
|
| Nat Genet 20 : 171-174. 1998
|
| 42 | EPM2A
|
| Identification of a recombination event narrowing the Lafora disease gene region.
|
| Maddox LO, Descartes M, Collins J, Keating J, Rosenfeld S, Palmer C, Carroll AJ, Kuzniecky R.
|
| J Med Genet 34(7):590-1. 1997
|
| 43 | EPM2A
|
| Lafora progressive myoclonus epilepsy : narrowing the chromosome 6q24 locus by recombinations and homozygosities.
|
| Sainz J, Minassian BA, Serratosa JM, Gee MN, Sakamoto LM, Iranmanesh R, Bohlega S, Baumann RJ, Ryan S, Sparkes RS, Delgado-Escueta AV.
|
| Am J Hum Genet 61(5):1205-9. 1997
|
| 44 | EPM2A
|
| The gene for progressive myoclonus epilepsy of the Lafora type maps to chromosome 6q.
|
| Serratosa JM, et al.
|
| Hum Mol Genet 4 : 1657-1663. 1995
|