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Items: 1 to 20 of 151

1.

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. doi: 10.1016/j.ygeno.2011.10.001. Epub 2011 Oct 19.

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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. doi: 10.1002/humu.20737.

PMID:
18311786
4.

Lafora progressive myoclonus epilepsy: recent insights into cell degeneration.

Spuch C, Ortolano S, Navarro C.

Recent Pat Endocr Metab Immune Drug Discov. 2012 May;6(2):99-107. Review.

PMID:
22369717
5.

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. doi: 10.1007/s00109-011-0758-y. Epub 2011 Apr 20.

6.

Genetic depletion of the malin E3 ubiquitin ligase in mice leads to lafora bodies and the accumulation of insoluble laforin.

DePaoli-Roach AA, Tagliabracci VS, Segvich DM, Meyer CM, Irimia JM, Roach PJ.

J Biol Chem. 2010 Aug 13;285(33):25372-81. doi: 10.1074/jbc.M110.148668. Epub 2010 Jun 10.

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 16;4(6):e5907. doi: 10.1371/journal.pone.0005907.

8.

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 1;12(23):3161-71. Epub 2003 Oct 7.

9.

Laforin in autophagy: a possible link between carbohydrate and protein in Lafora disease?

Puri R, Ganesh S.

Autophagy. 2010 Nov;6(8):1229-31. doi: 10.4161/auto.6.8.13307.

PMID:
20818153
10.

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. 2009 Feb 15;18(4):688-700. doi: 10.1093/hmg/ddn398. Epub 2008 Nov 25.

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Deciphering the role of malin in the lafora progressive myoclonus epilepsy.

Romá-Mateo C, Sanz P, Gentry MS.

IUBMB Life. 2012 Oct;64(10):801-8. doi: 10.1002/iub.1072. Epub 2012 Jul 20. Review.

13.

Regulation of glycogen synthesis by the laforin-malin complex is modulated by the AMP-activated protein kinase pathway.

Solaz-Fuster MC, Gimeno-Alcañiz JV, Ros S, Fernandez-Sanchez ME, Garcia-Fojeda B, Criado Garcia O, Vilchez D, Dominguez J, Garcia-Rocha M, Sanchez-Piris M, Aguado C, Knecht E, Serratosa J, Guinovart JJ, Sanz P, Rodriguez de Córdoba S.

Hum Mol Genet. 2008 Mar 1;17(5):667-78. Epub 2007 Nov 20.

14.

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):170-6.

PMID:
14722920
15.

Advances in lafora progressive myoclonus epilepsy.

Delgado-Escueta AV.

Curr Neurol Neurosci Rep. 2007 Sep;7(5):428-33. Review.

PMID:
17764634
16.

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 22;9(15):2251-61.

17.

Impaired autophagy in Lafora disease.

Knecht E, Aguado C, Sarkar S, Korolchuk VI, Criado-García O, Vernia S, Boya P, Sanz P, Rodríguez de Córdoba S, Rubinsztein DC.

Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11.

18.

Co-chaperone CHIP stabilizes aggregate-prone malin, a ubiquitin ligase mutated in Lafora disease.

Rao SN, Sharma J, Maity R, Jana NR.

J Biol Chem. 2010 Jan 8;285(2):1404-13. doi: 10.1074/jbc.M109.006312. Epub 2009 Nov 5.

19.

Phenotype variations in Lafora progressive myoclonus epilepsy: possible involvement of genetic modifiers?

Singh S, Ganesh S.

J Hum Genet. 2012 May;57(5):283-5. doi: 10.1038/jhg.2012.29. Epub 2012 Mar 29. Review.

PMID:
22456482
20.

Early-onset Lafora body disease.

Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, Omer S, Ahmed M, Bennett C, Chakrabarty A, Tyagi A, Liu Y, Pencea N, Zhao X, Scherer SW, Ackerley CA, Minassian BA.

Brain. 2012 Sep;135(Pt 9):2684-98. doi: 10.1093/brain/aws205.

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