Turnbull J, DePaoli-Roach AA, Zhao X, Cortez MA, Pencea N, Tiberia E, et al. Lafora disease: a case report and evolving treatment advances. J Child Neurol. 2023;38(12):779–89. https://doi.org/10.1177/08830738231218764. (PMID:38137127).

Article  Google Scholar 

Singh S, Ganesh S. Laforin targets malin to glycogen in Lafora progressive myoclonus epilepsy. J Biol Chem. 2023;298(12):102796. https://doi.org/10.1016/j.jbc.2023.102796. (PMID:36511140).

Article  Google Scholar 

Worby CA, Gentry MS, Dixon JE. Dimerization of the glucan phosphatase laforin requires the carbohydrate-binding domain. J Biol Chem. 2013;288(8):5591–601. https://doi.org/10.1074/jbc.M112.438820. (PMID:23922729).

DePaoli-Roach AA, Contreras CJ, Segvich DM, Heiss C, Ishihara M, Azadi P, et al. Inhibiting glycogen synthesis prevents Lafora disease in a mouse model. J Clin Invest. 2013;123(12):5199–210. https://doi.org/10.1172/JCI70448. (PMID:23913475).

Tagliabracci VS, Girard JM, Segvich DM, Meyer CM, Turnbull J, Zhao X, et al. Abnormal metabolism of glycogen phosphate as a cause for Lafora disease. J Biol Chem. 2018;293(19):7495–504. https://doi.org/10.1074/jbc.RA118.002431. (PMID:30152044).

Cheng X, Wu J, Chen L, Yu X, Ma L, Zhang Y. An inducible glycogen synthase-1 knockout halts but does not reverse Lafora body accumulation. J Biol Chem. 2021;296:100155. https://doi.org/10.1074/jbc.RA120.015446. (PMID:33277363).

Gayarre J, Duran-Trio L, Garcia-Gimeno MA, Schlüter A, Serratosa JM, Serrano S, et al. Deciphering the role of malin in the lafora progressive myoclonus epilepsy. Biochim Biophys Acta. 2012;1822(9):1506–13. https://doi.org/10.1016/j.bbadis.2012.06.003. (PMID:22815132).

Article  CAS  Google Scholar 

Montori-Grau M, Navarro-Sastre A, Ros S, Fernandez-Santiago R, Ventura C, Briones P, et al. Protein phosphatase 1 regulatory subunit 3B genotype at risk locus rs9940572 influences metabolic response in glycogen metabolism. Diabetes. 2021;70(6):1305–14. https://doi.org/10.2337/db20-0702. (PMID:33553972).

McCoy JG, Wereszczynski J, Gardner KH, Gellman SH. Structure-function analysis of PPP1R3D, a protein phosphatase 1 regulatory subunit involved in glycogen metabolism. Biochemistry. 2015;54(26):4124–35. https://doi.org/10.1021/acs.biochem.5b00558. (PMID:26114292).

Article  Google Scholar 

Khatri P, Roach PJ, McWeeney SK, Hsu CW, Ardekani AM, Snyder M, et al. Learning-induced gene expression in the hippocampus reveals a key role for glycogen metabolism in memory. Proc Natl Acad Sci U S A. 2015;112(40):12693–8. https://doi.org/10.1073/pnas.1512206112. (PMID:26513352).

Martín-Hernández E, Arias A, Díaz-Flores L, Cámara E, de Las HJ, Garzón M, et al. Cardiomyopathy as presenting sign of glycogenin-1 deficiency. Neuromuscul Disord. 2017;27(9):792–6. https://doi.org/10.1016/j.nmd.2017.07.003. (PMID:27718144).

Szklarczyk D, Kirsch R, Koutrouli M, Nastou K, Mehryary F, Hachilif R, et al. The STRING database in 2023: protein-protein association networks and functional enrichment analyses for any sequenced genome of interest. Nucleic Acids Res. 2023;51(D1):D638–D646. https://doi.org/10.1093/nar/gkac1000.

Article  CAS  PubMed  Google Scholar 

Vastrik I, D’Eustachio P, Schmidt E, Gopinath G, Croft D, de Bono B, et al. Reactome: a knowledge base of biologic pathways and processes. Genome Biol. 2007;8(3):R39. https://doi.org/10.1186/gb-2007-8-3-r39.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Pontén F, Jirström K, Uhlen M. The human protein atlas–a tool for pathology. J Pathol. 2008;216(4):387–93. https://doi.org/10.1002/path.2440.

Article  CAS  PubMed  Google Scholar 

Shannon P, Markiel A, Ozier O, Baliga NS, Wang JT, Ramage D, et al. Cytoscape: a software environment for integrated models of biomolecular interaction networks. Genome Res. 2003;13(11):2498–504. https://doi.org/10.1101/gr.1239303.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Kanehisa M, Furumichi M, Tanabe M, Sato Y, Morishima K. KEGG: new perspectives on genomes, pathways, diseases and drugs. Nucleic Acids Res. 2017;45(D1):D353–61. https://doi.org/10.1093/nar/gkw1092.

Article  CAS  PubMed  Google Scholar 

Roncaglia P, Martone ME, Hill DP, Berardini TZ, Foulger RE, Imam FT, et al. The gene ontology (GO) cellular component ontology: integration with SAO (subcellular anatomy ontology) and other recent developments. J Biomed Semantics. 2013;4(1):20. https://doi.org/10.1186/2041-1480-4-20.

Article  PubMed  PubMed Central  Google Scholar 

Binder JX, Pletscher-Frankild S, Tsafou K, Stolte C, O'Donoghue SI, Schneider R & Jensen LJ. COMPARTMENTS: unification and visualization of protein subcellular localization evidence. Database: the journal of biological databases and curation, 2014, bau012. https://doi.org/10.1093/database/bau012.

Turnbull J, DePaoli-Roach AA, Zhao X, et al. Lafora disease: toward a clinical, pathologic, and molecular synthesis. J Clin Invest. 2011;121(12):509–20.

Google Scholar 

Minassian BA, Lee JR, Herbrick JA, et al. Mutations in a gene encoding a novel protein tyrosine phosphatase cause progressive myoclonus epilepsy. Nat Genet. 1998;20(2):171–4.

Article  CAS  PubMed  Google Scholar 

Ganesh S, Puri R, Singh S, Mittal S. Recent advances in the molecular basis of Lafora’s progressive myoclonus epilepsy. J Hum Genet. 2006;51(1):1–8.

Article  CAS  PubMed  Google Scholar 

Roach PJ, Depaoli-Roach AA, Tagliabracci VS, et al. Glycogen storage diseases and their molecular basis: insights gained from laforin and malin. Trends Biochem Sci. 2012;37(5):284–92.

Google Scholar 

Aguado C, Sarkar S, Korolchuk VI, et al. Laforin, the most common mutation causing Lafora disease, is involved in the regulation of autophagy. Hum Mol Genet. 2010;19(14):2867–76.

Article  CAS  PubMed  PubMed Central  Google Scholar 

Vernia S, Heredia M, Criado O, Rodriguez S, Garcia-Roves PM, Céline Cansell, et al. Laforin, a dual specificity phosphatase involved in Lafora disease, regulates insulin response and whole-body energy balance in mice. Hum Mol Genet. [Internet]. 2011 [cited 2025 Mar 17];20(13):2571–84. Available from: https://academic.oup.com/hmg/article-abstract/20/13/2571/2527050?redirectedFrom=fulltext.

‌Turnbull J, Girard JM, Lohi H, Chan EM, Wang P, Tiberia E, et al. Early-onset Lafora body disease. Brain. 2012;135(9):2684–98.