ArticleNeurobiology of disease2021
Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.
Article in Neurobiology of disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 30 citations in OpenAlex.
- Crossing the blood-brain barrier: nanoparticle-based strategies for neurodegenerative disease therapy.Drug delivery and translational research · 2026Review
- Article
- Neuromuscular junction dysfunction in Lafora disease.Disease models & mechanisms · 2024Article
- Myofiber-type-dependent 'boulder' or 'multitudinous pebble' formations across distinct amylopectinoses.Acta neuropathologica · 2024Article
- Progressive Myoclonus Epilepsy: A Scoping Review of Diagnostic, Phenotypic and Therapeutic Advances.Genes · 2024Article
- Lafora progressive myoclonus epilepsy: Disease mechanism and therapeutic attempts.Journal of biosciences · 2024Review
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- Role of Astrocytes in the Pathophysiology of Lafora Disease and Other Glycogen Storage Disorders.Cells · 2023Review
- Early Treatment with Metformin Improves Neurological Outcomes in Lafora Disease.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2023Article
- Glial Contributions to Lafora Disease: A Systematic Review.Biomedicines · 2022Review
- Glycogen synthase downregulation rescues the amylopectinosis of murine RBCK1 deficiency.Brain : a journal of neurology · 2022Article
- Molecular basis for the regulation of human glycogen synthase by phosphorylation and glucose-6-phosphate.Nature structural & molecular biology · 2022Article
- Mechanism of glycogen synthase inactivation and interaction with glycogenin.Nature communications · 2022Article
- Lafora disease: Current biology and therapeutic approaches.Revue neurologique · 2022Review
- Lack of p62 Impairs Glycogen Aggregation and Exacerbates Pathology in a Mouse Model of Myoclonic Epilepsy of Lafora.Molecular neurobiology · 2022Article
- Malin restoration as proof of concept for gene therapy for Lafora disease.Brain communications · 2022Article
- Gys1 antisense therapy rescues neuropathological bases of murine Lafora disease.Brain : a journal of neurology · 2021Article
- LUBAC: a new player in polyglucosan body disease.Biochemical Society transactions · 2021Review
- The 6th International Lafora Epilepsy Workshop: Advances in the search for a cure.Epilepsy & behavior : E&B · 2021Review
- Targeting Gys1 with AAV-SaCas9 Decreases Pathogenic Polyglucosan Bodies and Neuroinflammation in Adult Polyglucosan Body and Lafora Disease Mouse Models.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2021Article
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Authors and funding
5 authors at 2 institutions in 1 country.
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Abstract
Lafora disease (LD) is a fatal adolescence-onset neurodegenerative condition. The hallmark of LD is the accumulation of aberrant glycogen aggregates called Lafora bodies (LBs) in the brain and other tissues. Impeding glycogen synthesis from early embryonic stages by genetic suppression of glycogen synthase (MGS) in an animal model of LD prevents LB formation and ultimately the pathological manifestations of LD thereby indicating that LBs are responsible for the pathophysiology of the disease. However, it is not clear whether eliminating glycogen synthesis in an adult animal after LBs have already formed would halt or reverse the progression of LD. Herein we generated a mouse model of LD with inducible MGS suppression. We evaluated the effect of MGS suppression at different time points on LB accumulation as well as on the appearance of neuroinflammation, a pathologic trait of LD models. In the skeletal muscle, MGS suppression in adult LD mice blocked the formation of new LBs and reduced the number of glycogen aggregates. In the brain, early but not late MGS suppression halted the accumulation of LBs. However, the neuroinflammatory response was still present, as shown by the levels of reactive astrocytes, microglia and inflammatory cytokines. Our results confirm that MGS as a promising therapeutic target for LD and highlight the importance of an early diagnosis for effective treatment of the disease.
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