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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. Fernández-Sánchez ME, et al. Among authors: rodriguez de cordoba s. Hum Mol Genet. 2003 Dec 1;12(23):3161-71. doi: 10.1093/hmg/ddg340. Epub 2003 Oct 7. Hum Mol Genet. 2003. PMID: 14532330
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. Solaz-Fuster MC, et al. Among authors: rodriguez de cordoba s. Hum Mol Genet. 2008 Mar 1;17(5):667-78. doi: 10.1093/hmg/ddm339. Epub 2007 Nov 20. Hum Mol Genet. 2008. PMID: 18029386 Free article.
Lafora bodies and neurological defects in malin-deficient mice correlate with impaired autophagy.
Criado O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Knecht E, Rodriguez de Cordoba S. Criado O, et al. Among authors: rodriguez de cordoba s. Hum Mol Genet. 2012 Apr 1;21(7):1521-33. doi: 10.1093/hmg/ddr590. Epub 2011 Dec 20. Hum Mol Genet. 2012. PMID: 22186026
Lafora disease due to EPM2B mutations: a clinical and genetic study.
Gómez-Abad C, Gómez-Garre P, Gutiérrez-Delicado E, Saygi S, Michelucci R, Tassinari CA, Rodríguez de Córdoba S, Serratosa JM. Gómez-Abad C, et al. Among authors: rodriguez de cordoba s. Neurology. 2005 Mar 22;64(6):982-6. doi: 10.1212/01.WNL.0000154519.10805.F7. Neurology. 2005. PMID: 15781812 Free article.
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. Knecht E, et al. Among authors: rodriguez de cordoba s. Autophagy. 2010 Oct;6(7):991-3. doi: 10.4161/auto6.7.13308. Epub 2010 Oct 11. Autophagy. 2010. PMID: 20818165 Free PMC article.
Malin knockout mice support a primary role of autophagy in the pathogenesis of Lafora disease.
Knecht E, Criado-García O, Aguado C, Gayarre J, Duran-Trio L, Garcia-Cabrero AM, Vernia S, San Millán B, Heredia M, Romá-Mateo C, Mouron S, Juana-López L, Domínguez M, Navarro C, Serratosa JM, Sanchez M, Sanz P, Bovolenta P, Rodríguez de Córdoba S. Knecht E, et al. Among authors: rodriguez de cordoba s. Autophagy. 2012 Apr;8(4):701-3. doi: 10.4161/auto.19522. Epub 2012 Apr 1. Autophagy. 2012. PMID: 22361617 Free article. Review.
191 results