ReviewThe EMBO journal2003
Molecular background of progressive myoclonus epilepsy.
Review in The EMBO journal, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 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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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
17 citing papers in PubMed, 60 citations in OpenAlex.
- Cystatin B Attenuates Cerebral Ischemia Reperfusion Injury by Inhibiting the JAK2/STAT3 Signaling Pathway.CNS neuroscience & therapeutics · 2026Article
- Single-cell and bulk transcriptome profiling reveals RNA-binding protein regulatory programs in cervical cancer.Scientific reports · 2025Article
- Genetic profile of progressive myoclonic epilepsy in Mali reveals novel findings.Frontiers in neurology · 2024Article
- The cerebellum contributes to generalized seizures by altering activity in the ventral posteromedial nucleus.Communications biology · 2023Article
- Article
- Animal Models of Metabolic Epilepsy and Epilepsy Associated Metabolic Dysfunction: A Systematic Review.Pharmaceuticals (Basel, Switzerland) · 2020Review
- Dementia in Down syndrome: unique insights for Alzheimer disease research.Nature reviews. Neurology · 2019Review
- Cystatin C in aging and in Alzheimer's disease.Ageing research reviews · 2016Review
- Sex differences in protein expression in the mouse brain and their perturbations in a model of Down syndrome.Biology of sex differences · 2015Article
- A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia.American journal of human genetics · 2011Article
- Protective mechanisms by cystatin C in neurodegenerative diseases.Frontiers in bioscience (Scholar edition) · 2011Review
- Cystatin C rescues degenerating neurons in a cystatin B-knockout mouse model of progressive myoclonus epilepsy.The American journal of pathology · 2010Article
- Gene polymorphisms and their role in epilepsy treatment and prognosis.Naunyn-Schmiedeberg's archives of pharmacology · 2010Review
- Stefin B interacts with histones and cathepsin L in the nucleus.The Journal of biological chemistry · 2010Article
- Article
- A distinct autosomal recessive ataxia maps to chromosome 12 in an inbred family from Jordan.Brain & development · 2006Article
- Evolutionary families of peptidase inhibitors.The Biochemical journal · 2004Review
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 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Research on human inherited diseases provides a powerful tool to identify an intrinsically important subset of genes vital to healthy functioning of the organism. Progressive myoclonus epilepsies (PMEs) are a group of rare inherited disorders characterized by the association of epilepsy, myoclonus and progressive neurological deterioration. Significant progress has been made in elucidating the molecular background of PMEs. Here, progress towards understanding the molecular pathogenesis of PMEs is reviewed using the most common single cause of PME, Unverricht-Lundborg disease, as an example. Mutations in the gene encoding cystatin B (CSTB), a cysteine protease inhibitor, are responsible for the primary defect in Unverricht-Lundborg disease. CSTB-deficient mice, produced by targeted disruption of the mouse Cstb gene, display a phenotype similar to the human disease, with progressive ataxia and myoclonic seizures. The mice show neuronal atrophy, apoptosis and gliosis as well as increased expression of apoptosis and glial activation genes. Although significant advances towards understanding the molecular basis of Unverricht-Lundborg disease have been achieved, the physiological function of CSTB and the molecular pathogenesis of the disease remain unknown.
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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.