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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.The Journal of Biological Chemistry|October 22, 2013
Deficiency of a glycogen synthase-associated protein, Epm2aip1, causes decreased glycogen synthesis and hepatic insulin resistanceJulie Turnbull, Erica Tiberia, Sandra Pereira, et al.Brain : a Journal of Neurology|September 11, 2012
Early-onset Lafora body diseaseJulie Turnbull, Jean-Marie Girard, Hannes Lohi, et al.Plos Genetics|August 11, 2011
LGI2 truncation causes a remitting focal epilepsy in dogsEija H Seppälä, Tarja S Jokinen, Masaki Fukata, et al.Nature Genetics|September 6, 2003
Mutations in NHLRC1 cause progressive myoclonus epilepsyElayne M Chan, Edwin J Young, Leonarda Ianzano, et al.Annals of Clinical and Translational Neurology|October 9, 2020
GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body diseaseErin E Chown, Peixiang Wang, Xiaochu Zhao, et al.Ebiomedicine|February 7, 2024
Targeted macrophage phagocytosis by Irg1/itaconate axis improves the prognosis of intracerebral hemorrhagic stroke and peritonitisZhaoli Luo, Ziyang Sheng, Liye Hu, et al.Brain : a Journal of Neurology|January 27, 2022
Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiencySilvia Nitschke, Mitchell A Sullivan, Sharmistha Mitra, et al.Cell Reports|January 4, 2024
Identification of a broad sarbecovirus neutralizing antibody targeting a conserved epitope on the receptor-binding domainYanqun Wang, Zhaoyong Zhang, Minnan Yang, et al.Pageof 3