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The Journal of Biological Chemistry|December 5, 2020
An inducible glycogen synthase-1 knockout halts but does not reverse Lafora disease progression in miceSilvia Nitschke, Erin E Chown, Xiaochu Zhao, et al.Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics|March 13, 2026
Lafora disease gene therapy: EPM2A but not EPM2B overexpression results in Lafora body formationEsther O Alao, Mehrnaz Sheibani, Jun Wu, et al.Cell Metabolism|May 14, 2013
Hyperphosphorylation of glucosyl C6 carbons and altered structure of glycogen in the neurodegenerative epilepsy Lafora diseaseFelix Nitschke, Peixiang Wang, Peter Schmieder, et al.Acta Neuropathologica|February 27, 2024
Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinosesSharmistha Mitra, Baozhi Chen, John M Shelton, et al.EMBO Molecular Medicine|May 25, 2017
Abnormal glycogen chain length pattern, not hyperphosphorylation, is critical in Lafora diseaseFelix Nitschke, Mitchell A Sullivan, Peixiang Wang, et al.Carbohydrate Polymers|April 30, 2025
Covalently linked phosphate monoesters on alpha-polyglucans reduce substrate affinity of branching enzymesVictoria Butler, Hanan Shaaban, Lilya Nasanovsky, et al.The EMBO Journal|January 13, 2025
Glycogen synthase GYS1 overactivation contributes to glycogen insolubility and malto-oligoglucan-associated neurodegenerative diseaseSilvia Nitschke, Alina P Montalbano, Megan E Whiting, et al.Cell Reports|May 3, 2019
Skeletal Muscle Glycogen Chain Length Correlates with Insolubility in Mouse Models of Polyglucosan-Associated Neurodegenerative DiseasesMitchell A Sullivan, Silvia Nitschke, Evan P Skwara, et al.Neurology. Genetics|October 27, 2025
Neurofilament Light Chain as a Biomarker of Disease Progression in Lafora DiseaseLorenzo Muccioli, Bazile Ganceviciute, Felicitas Becker, et al.Communications Biology|May 20, 2024
GDE5/Gpcpd1 activity determines phosphatidylcholine composition in skeletal muscle and regulates contractile force in miceRahmawati Aisyah, Noriyasu Ohshima, Daiki Watanabe, et al.Pageof 4