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An empirical pipeline for personalized diagnosis of Lafora disease mutations.
Brewer MK, Machio-Castello M, Viana R, Wayne JL, Kuchtová A, Simmons ZR, Sternbach S, Li S, García-Gimeno MA, Serratosa JM, Sanz P, Vander Kooi CW, Gentry MS. Brewer MK, et al. Among authors: sanz p. iScience. 2021 Oct 13;24(11):103276. doi: 10.1016/j.isci.2021.103276. eCollection 2021 Nov 19. iScience. 2021. PMID: 34755096 Free PMC article.
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: sanz p. 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: sanz p. 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.
430 results