ReviewJournal of human genetics2006
Recent advances in the molecular basis of Lafora's progressive myoclonus epilepsy.
Review in Journal of human genetics, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 57 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
57 citing papers in PubMed, 137 citations in OpenAlex.
- Neuromuscular junction dysfunction in Lafora disease.Disease models & mechanisms · 2024Article
- MRI characteristics due to gene mutations in a Chinese pedigree with Lafora disease.Molecular genetics & genomic medicine · 2023Article
- Article
- Trehalose Treatment in Zebrafish Model of Lafora Disease.International journal of molecular sciences · 2022Article
- Diseases and conditions that impact maternal and fetal health and the potential for nanomedicine therapies.Advanced drug delivery reviews · 2021Review
- Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.Neurobiology of disease · 2021Article
- Discovery and Development of Small-Molecule Inhibitors of Glycogen Synthase.Journal of medicinal chemistry · 2020Article
- A novel EPM2A mutation yields a slow progression form of Lafora disease.Epilepsy research · 2018Article
- Lafora Disease Masquerading as Hepatic Dysfunction.Cureus · 2018Article
- Lafora disease: from genotype to phenotype.Journal of genetics · 2018Review
- Degradation of altered mitochondria by autophagy is impaired in Lafora disease.The FEBS journal · 2018Article
- The dynamic life of the glycogen granule.The Journal of biological chemistry · 2018Review
- Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.Frontiers in pediatrics · 2018Article
- Novel method for detection of glycogen in cells.Glycobiology · 2017Article
- Loss of malin, but not laforin, results in compromised autophagic flux and proteasomal dysfunction in cells exposed to heat shock.Cell stress & chaperones · 2017Article
- Lafora disease.Epileptic disorders : international epilepsy journal with videotape · 2016Review
- Incorporation of phosphate into glycogen by glycogen synthase.Archives of biochemistry and biophysics · 2016Article
- Glycogen metabolism has a key role in the cancer microenvironment and provides new targets for cancer therapy.Journal of molecular medicine (Berlin, Germany) · 2016Review
- Interdependence of laforin and malin proteins for their stability and functions could underlie the molecular basis of locus heterogeneity in Lafora disease.Journal of biosciences · 2015Article
- Glycogen phosphorylation and Lafora disease.Molecular aspects of medicine · 2015Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Lafora's disease (LD) is an autosomal recessive and fatal form of progressive myoclonus epilepsy with onset in late childhood or adolescence. LD is characterised by the presence of intracellular polyglucosan inclusions, called Lafora bodies, in tissues including the brain, liver and skin. Patients have progressive neurologic deterioration, leading to death within 10 years of onset. No preventive or curative treatment is available for LD. At least three genes underlie LD, of which two have been isolated and mutations characterised: EPM2A and NHLRC1. The EPM2A gene product laforin is a protein phosphatase while the NHLRC1 gene product malin is an E3 ubiquitin ligase that ubiquitinates and promotes the degradation of laforin. Analyses of the structure and function of these gene products suggest defects in post-translational modification of proteins as the common mechanism that leads to the formation of Lafora inclusion bodies, neurodegeneration and the epileptic phenotype of LD. In this review, we summarise the available information on the genetic basis of LD, and correlate these advances with the rapidly expanding information about the mechanisms of LD gained from studies on both cell biological and animal models. Finally, we also discuss a possible mechanism to explain the locus heterogeneity observed in LD.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.