ReviewThe application of clinical genetics2016
Genetics of Lafora progressive myoclonic epilepsy: current perspectives.
Review in The application of clinical genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 16 citations in OpenAlex.
- Lafora Disease: A Case Report and Evolving Treatment Advancements.Brain sciences · 2023Article
- Identification ofInternational journal of molecular sciences · 2022Article
- Novel mutation of EPM2A causes progressive myoclonic epilepsy: a case report.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- A novel deletion mutation inNeurology Asia · 2021Article
- Genetic cause of epilepsy in a Greek cohort of children and young adults with heterogeneous epilepsy syndromes.Epilepsy & behavior reports · 2021Article
- Update on polyglucosan storage diseases.Virchows Archiv : an international journal of pathology · 2019Review
- [Lafora disease: a review of the literature].Revista de neurologia · 2019Review
- A novel EPM2A mutation yields a slow progression form of Lafora disease.Epilepsy research · 2018Article
- Review
- Spatiotemporal progression of ubiquitin-proteasome system inhibition after status epilepticus suggests protective adaptation against hippocampal injury.Molecular neurodegeneration · 2017Article
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long, linear, poorly branched, hyperphosphorylated, insoluble form of glycogen. Loss-of-function mutations either in the EPM2A or in the NHLRC1 gene lead to polyglucosan formation. One hypothesis on LB formation is based on findings that laforin-malin complex downregulates glycogen synthase (GS) through malin-mediated ubiquitination, and the other one is based on findings that laforin dephosphorylates glycogen. According to the first hypothesis, polyglucosan formation is a result of increased GS activity, and according to the second, an increased glycogen phosphate leads to glycogen conformational change, unfolding, precipitation, and conversion to polyglucosan, while GS remains bound to the precipitating glycogen. In this review, we summarize all the recent findings that have important implications for the treatment of LD, all of them showing that partial inhibition of GS activity may be sufficient to prevent the progression of the disease. The current perspective in LD is high-throughput screening for small molecules that act on the disease pathway, that is, partial inhibitors of GS, which opens a therapeutic window for potential treatment of this fatal disease.
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