Citations for
1EPM2A, 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
2EPM2A, 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
3EPM2A, 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
4EPM2A
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
5EPM2A
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
6EPM2A
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
7EPM2A
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
8EPM2A
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
9EPM2A
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
10EPM2A, 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
11EPM2A
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
12EPM2A, 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
13EPM2A, 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
14EPM2A, 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
15EPM2A
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
16EPM2A, 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
17EPM2A, 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
18EPM2A, 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
19EPM2A
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
20EPM2A
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
21EPM2A
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
22EPM2A, 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
23EPM2A
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
24EPM2A,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
25EPM2A
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
26EPM2A,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
27EPM2A
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
28EPM2A
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
29EPM2A
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
30EPM2A
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
31EPM2A
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
32EPM2A
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
33EPM2A
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
34EPM2A
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
35EPM2A
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
36EPM2A
Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy.
Minassian BA, et al.
Nat Genet 20 : 171-174. 1998
37EPM2A
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
38EPM2A
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
39EPM2A
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