ArticlePloS one2013
Nonsense-mediated mRNA decay and loss-of-function of the protein underlie the X-linked epilepsy associated with the W356× mutation in synapsin I.
Article in PloS one, 2013. 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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Who cites it
17 citing papers in PubMed, 33 citations in OpenAlex.
- Genetic crosstalk of autism spectrum disorders and epilepsy: an insight into the presynapse.Frontiers in neurology · 2025Article
- Article
- Maternal synapsin autoantibodies are associated with neurodevelopmental delay.Frontiers in immunology · 2023Article
- Developmental and epileptic encephalopathies: from genetic heterogeneity to phenotypic continuum.Physiological reviews · 2023Review
- The different clinical facets ofFrontiers in cell and developmental biology · 2022Article
- Neuroprogenitor Cells From Patients With TBCK Encephalopathy Suggest Deregulation of Early Secretory Vesicle Transport.Frontiers in cellular neuroscience · 2021Article
- Article
- Growth and excitability at synapsin II deficient hippocampal neurons.Molecular and cellular neurosciences · 2019Article
- Impaired GABAOncotarget · 2017Article
- Synapsin II Regulation of GABAergic Synaptic Transmission Is Dependent on Interneuron Subtype.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2017Article
- RNA sequencing of synaptic and cytoplasmic Upf1-bound transcripts supports contribution of nonsense-mediated decay to epileptogenesis.Scientific reports · 2017Article
- Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.Neurobiology of disease · 2016Article
- Rett syndrome like phenotypes in the R255X Mecp2 mutant mouse are rescued by MECP2 transgene.Human molecular genetics · 2015Article
- Intellectual disability and autism spectrum disorders: causal genes and molecular mechanisms.Neuroscience and biobehavioral reviews · 2014Review
- Involvement of synaptic genes in the pathogenesis of autism spectrum disorders: the case of synapsins.Frontiers in pediatrics · 2014Review
- SYN2 is an autism predisposing gene: loss-of-function mutations alter synaptic vesicle cycling and axon outgrowth.Human molecular genetics · 2014Article
- Characterization of the zebrafish gabra1Differentiation; research in biological diversityArticle
Corrections and comments
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Authors and funding
7 authors at 4 institutions in 2 countries.
Funding
Abstract
Synapsins are a family of neuronal phosphoproteins associated with the cytosolic surface of synaptic vesicles. Experimental evidence suggests a role for synapsins in synaptic vesicle clustering and recycling at the presynaptic terminal, as well as in neuronal development and synaptogenesis. Synapsin knock-out (Syn1(-/-) ) mice display an epileptic phenotype and mutations in the SYN1 gene have been identified in individuals affected by epilepsy and/or autism spectrum disorder. We investigated the impact of the c.1067G>A nonsense transition, the first mutation described in a family affected by X-linked syndromic epilepsy, on the expression and functional properties of the synapsin I protein. We found that the presence of a premature termination codon in the human SYN1 transcript renders it susceptible to nonsense-mediated mRNA decay (NMD). Given that the NMD efficiency is highly variable among individuals and cell types, we investigated also the effects of expression of the mutant protein and found that it is expressed at lower levels compared to wild-type synapsin I, forms perinuclear aggregates and is unable to reach presynaptic terminals in mature hippocampal neurons grown in culture. Taken together, these data indicate that in patients carrying the W356× mutation the function of synapsin I is markedly impaired, due to both the strongly decreased translation and the altered function of the NMD-escaped protein, and support the value of Syn1(-/-) mice as an experimental model mimicking the human pathology.
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