ReviewCurrent neurology and neuroscience reports2007
Advances in lafora progressive myoclonus epilepsy.
Review in Current neurology and neuroscience reports, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 45 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
45 citing papers in PubMed, 85 citations in OpenAlex.
- TNF and IL6/Jak2 signaling pathways are the main contributors of the glia-derived neuroinflammation present in Lafora disease, a fatal form of progressive myoclonus epilepsy.Neurobiology of disease · 2023Article
- The second family affected with a PRDM8-related disease.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- C-terminus of Hsp70 Interacting Protein (CHIP) and Neurodegeneration: Lessons from the Bench and Bedside.Current neuropharmacology · 2021Review
- Suppression of glycogen synthesis as a treatment for Lafora disease: Establishing the window of opportunity.Neurobiology of disease · 2021Article
- Glycogen in Astrocytes and Neurons: Physiological and Pathological Aspects.Advances in neurobiology · 2019Review
- Article
- Human and Microbial Proteins From Corpora Amylacea of Alzheimer's Disease.Scientific reports · 2018Article
- Degradation of altered mitochondria by autophagy is impaired in Lafora disease.The FEBS journal · 2018Article
- Diabetes Mellitus in a Patient With Lafora Disease: Possible Links With Pancreatic β-Cell Dysfunction and Insulin Resistance.Frontiers in pediatrics · 2018Article
- Inflammation in Lafora Disease: Evolution with Disease Progression in Laforin and Malin Knock-out Mouse Models.Molecular neurobiology · 2017Article
- Homeostasis of the astrocytic glutamate transporter GLT-1 is altered in mouse models of Lafora disease.Biochimica et biophysica acta · 2016Article
- Incorporation of phosphate into glycogen by glycogen synthase.Archives of biochemistry and biophysics · 2016Article
- Pharmacological Interventions to Ameliorate Neuropathological Symptoms in a Mouse Model of Lafora Disease.Molecular neurobiology · 2016Article
- Cerebellar Dysfunction and Ataxia in Patients with Epilepsy: Coincidence, Consequence, or Cause?Tremor and other hyperkinetic movements (New York, N.Y.) · 2016Article
- Glycogen phosphorylation and Lafora disease.Molecular aspects of medicine · 2015Review
- Muscle glycogen remodeling and glycogen phosphate metabolism following exhaustive exercise of wild type and laforin knockout mice.The Journal of biological chemistry · 2015Article
- Glycogen phosphomonoester distribution in mouse models of the progressive myoclonic epilepsy, Lafora disease.The Journal of biological chemistry · 2015Article
- Autophagy and neurodegeneration.The Journal of clinical investigation · 2015Review
- Neuronal glycogen synthesis contributes to physiological aging.Aging cell · 2014Article
- Expression, purification and characterization of soluble red rooster laforin as a fusion protein in Escherichia coli.BMC biochemistry · 2014Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Abstract Lafora progressive myoclonus epilepsy is an autosomal recessive, fatal, generalized polyglucosan storage disorder that occurs in childhood or adolescence with stimulus sensitive epilepsy (resting and action myoclonias, grand mal, and absence), dementia, ataxia and rapid neurologic deterioration. Mutations in EPM2A/laforin cause 58% of cases and mutations in EPM2B/malin cause 35% of cases. Accumulating evidence points to Lafora disease as primarily a disorder of cell death with impaired clearance of misfolded proteins, as shown by ubiquitin-positive aggresomes in HeLa cells transfected with mutated laforin, ubiquitin-positive polyglucosan inclusion bodies, and malin/E3 ubiquitin ligase polyubiquitination of laforin. How polyglucosan inclusion bodies accumulate is still a mystery. Polyglucosan accumulates hypothetically because of an overactive polyglucosan biosynthetic pathway or a breakdown in polyglucosan degradation. Five separate laboratories are looking for the biochemical pathways that connect laforin and malin to polyglucosan synthesis or degradation. A curative therapy for human Lafora disease with laforin replacement therapy using neutral pegylated immunoliposomes is being investigated.
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Registered trials
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.