ArticleDisease models & mechanisms2013
Mechanisms of prickle1a function in zebrafish epilepsy and retinal neurogenesis.
Article in Disease models & mechanisms, 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, 26 citations in OpenAlex.
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- The role of prickle proteins in vertebrate development and pathology.Molecular and cellular biochemistry · 2024Review
- Downregulation of oxidative stress-mediated glial innate immune response suppresses seizures in a fly epilepsy model.Cell reports · 2023Article
- Epilepsy geneiScience · 2023Article
- Aquatic Freshwater Vertebrate Models of Epilepsy Pathology: Past Discoveries and Future Directions for Therapeutic Discovery.International journal of molecular sciences · 2022Review
- Epilepsy protein Efhc1/myoclonin1 is expressed in cells with motile cilia but not in neurons or mitotic apparatuses in brain.Scientific reports · 2020Article
- Article
- Zebrafish Models of Neurodevelopmental Disorders: Past, Present, and Future.Frontiers in molecular neuroscience · 2018Review
- Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.Annals of clinical and translational neurology · 2016Article
- Automated, high-throughput, in vivo analysis of visual function using the zebrafish.Developmental dynamics : an official publication of the American Association of Anatomists · 2016Article
- Hypomorphic mutations in TRNT1 cause retinitis pigmentosa with erythrocytic microcytosis.Human molecular genetics · 2016Article
- A de novo mutation in PRICKLE1 in fetal agenesis of the corpus callosum and polymicrogyria.Journal of neurogenetics · 2015Article
- Prickle1 is necessary for the caudal migration of murine facial branchiomotor neurons.Cell and tissue research · 2014Article
- Functional characterization of Prickle2 and BBS7 identify overlapping phenotypes yet distinct mechanisms.Developmental biology · 2014Article
- prickle modulates microtubule polarity and axonal transport to ameliorate seizures in flies.Proceedings of the National Academy of Sciences of the United States of America · 2014Article
- Article
- High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy.Journal of neurogeneticsArticle
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
Epilepsy is a complex neurological disorder characterized by unprovoked seizures. The etiology is heterogeneous with both genetic and environmental causes. Genes that regulate neurotransmitters and ion channels in the central nervous system have been associated with epilepsy. However, a recent screening in human epilepsy patients identified mutations in the PRICKLE1 (PK1) locus, highlighting a potentially novel mechanism underlying seizures. PK1 is a core component of the planar cell polarity network that regulates tissue polarity. Zebrafish studies have shown that Pk1 coordinates cell movement, neuronal migration and axonal outgrowth during embryonic development. Yet how dysfunction of Pk1 relates to epilepsy is unknown. To address the mechanism underlying epileptogenesis, we used zebrafish to characterize Pk1a function and epilepsy-related mutant forms. We show that knockdown of pk1a activity sensitizes zebrafish larva to a convulsant drug. To model defects in the central nervous system, we used the retina and found that pk1a knockdown induces neurite outgrowth defects; yet visual function is maintained. Furthermore, we characterized the functional and biochemical properties of the PK1 mutant forms identified in human patients. Functional analyses demonstrate that the wild-type Pk1a partially suppresses the gene knockdown retinal defects but not the mutant forms. Biochemical analysis reveals increased ubiquitylation of one mutant form and decreased translational efficiency of another mutant form compared with the wild-type Pk1a. Taken together, our results indicate that mutation of human PK1 could lead to defects in neurodevelopment and signal processing, providing insight into seizure predisposition in these patients.
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