ArticlePloS one2013
PRICKLE1 interaction with SYNAPSIN I reveals a role in autism spectrum disorders.
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 30 papers.
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Who cites it
30 citing papers in PubMed.
- Evolving Insights into Prickle2 in Neurodevelopment and Neurological Disorders.Molecular neurobiology · 2025Review
- The role of prickle proteins in vertebrate development and pathology.Molecular and cellular biochemistry · 2024Review
- Epilepsy geneiScience · 2023Article
- Distinct overlapping functions for Prickle1 and Prickle2 in the polarization of the airway epithelium.Frontiers in cell and developmental biology · 2022Article
- Mutation of the murine Prickle1 (R104Q) causes phenotypes analogous to human symptoms of epilepsy and autism.Experimental neurology · 2022Article
- The gut-microbiota-brain axis in autism: what Drosophila models can offer?Journal of neurodevelopmental disorders · 2021Review
- Variable neurodevelopmental and morphological phenotypes of carriers with 12q12 duplications.Molecular genetics & genomic medicine · 2020Article
- Linking Cell Polarity to Cortical Development and Malformations.Frontiers in cellular neuroscience · 2019Review
- A de novo mutation in PRICKLE1 associated with myoclonic epilepsy and autism spectrum disorder.Journal of neurogenetics · 2018Article
- Extracellular superoxide dismutase (SOD3) regulates oxidative stress at the vitreoretinal interface.Free radical biology & medicine · 2018Article
- Hub connectivity, neuronal diversity, and gene expression in the Caenorhabditis elegans connectome.PLoS computational biology · 2018Article
- Epilepsy as a Network Disorder (1): What can we learn from other network disorders such as autistic spectrum disorder and mood disorders?Epilepsy & behavior : E&B · 2017Article
- A proteomic analysis of LRRK2 binding partners reveals interactions with multiple signaling components of the WNT/PCP pathway.Molecular neurodegeneration · 2017Article
- Neurodevelopmental Perspectives on Wnt Signaling in Psychiatry.Molecular neuropsychiatry · 2017Review
- Evidence for opposing roles of Celsr3 and Vangl2 in glutamatergic synapse formation.Proceedings of the National Academy of Sciences of the United States of America · 2017Article
- Prickle1 regulates neurite outgrowth of apical spiral ganglion neurons but not hair cell polarity in the murine cochlea.PloS one · 2017Article
- Dynamin 1 isoform roles in a mouse model of severe childhood epileptic encephalopathy.Neurobiology of disease · 2016Article
- Mutation of orthologous prickle genes causes a similar epilepsy syndrome in flies and humans.Annals of clinical and translational neurology · 2016Article
- Olfactory stem cells reveal MOCOS as a new player in autism spectrum disorders.Molecular psychiatry · 2016Article
- Epilepsy and Autism.Cold Spring Harbor perspectives in medicine · 2016Review
Corrections and comments
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Authors and funding
25 authors.
Funding
Abstract
The frequent comorbidity of Autism Spectrum Disorders (ASDs) with epilepsy suggests a shared underlying genetic susceptibility; several genes, when mutated, can contribute to both disorders. Recently, PRICKLE1 missense mutations were found to segregate with ASD. However, the mechanism by which mutations in this gene might contribute to ASD is unknown. To elucidate the role of PRICKLE1 in ASDs, we carried out studies in Prickle1(+/-) mice and Drosophila, yeast, and neuronal cell lines. We show that mice with Prickle1 mutations exhibit ASD-like behaviors. To find proteins that interact with PRICKLE1 in the central nervous system, we performed a yeast two-hybrid screen with a human brain cDNA library and isolated a peptide with homology to SYNAPSIN I (SYN1), a protein involved in synaptogenesis, synaptic vesicle formation, and regulation of neurotransmitter release. Endogenous Prickle1 and Syn1 co-localize in neurons and physically interact via the SYN1 region mutated in ASD and epilepsy. Finally, a mutation in PRICKLE1 disrupts its ability to increase the size of dense-core vesicles in PC12 cells. Taken together, these findings suggest PRICKLE1 mutations contribute to ASD by disrupting the interaction with SYN1 and regulation of synaptic vesicles.
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