ArticleNeuron2015
JAKMIP1, a Novel Regulator of Neuronal Translation, Modulates Synaptic Function and Autistic-like Behaviors in Mouse.
Article in Neuron, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers.
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Who cites it
26 citing papers in PubMed, 42 citations in OpenAlex.
- Article
- Increased expression of ATase1/NAT8B or ATase2/NAT8 in the mouse results in an autistic-like phenotype with altered dendritic branching and spine formation.Molecular psychiatry · 2026Article
- A practical framework for predicting splicing single nucleotide variants in exome sequencing.NAR genomics and bioinformatics · 2025Article
- CLASP-mediated competitive binding in protein condensates directs microtubule growth.Nature communications · 2024Article
- Review
- Comprehensive analysis of the circRNA expression profile and circRNA-miRNA-mRNA network in pelvic organ prolapse.Frontiers in genetics · 2024Article
- Intersectin deficiency impairs cortico-striatal neurotransmission and causes obsessive-compulsive behaviors in mice.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Genetics of glutamate and its receptors in autism spectrum disorder.Molecular psychiatry · 2022Review
- Increased expression of SLC25A1/CIC causes an autistic-like phenotype with altered neuron morphology.Brain : a journal of neurology · 2022Article
- SLC13A5/sodium-citrate co-transporter overexpression causes disrupted white matter integrity and an autistic-like phenotype.Brain communications · 2022Article
- Autism-like social deficit generated by Dock4 deficiency is rescued by restoration of Rac1 activity and NMDA receptor function.Molecular psychiatry · 2021Article
- Cell-type-specific profiling of human cellular models of fragile X syndrome reveal PI3K-dependent defects in translation and neurogenesis.Cell reports · 2021Article
- Local Protein Translation and RNA Processing of Synaptic Proteins in Autism Spectrum Disorder.International journal of molecular sciences · 2021Review
- De novo missense variants disrupting protein-protein interactions affect risk for autism through gene co-expression and protein networks in neuronal cell types.Molecular autism · 2020Article
- Emerging proteomic approaches to identify the underlying pathophysiology of neurodevelopmental and neurodegenerative disorders.Molecular autism · 2020Review
- Sociability development in mice with cell-specific deletion of the NMDA receptor NR1 subunit gene.Genes, brain, and behavior · 2020Article
- Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.Molecular psychiatry · 2019Article
- CYFIP1 overexpression increases fear response in mice but does not affect social or repetitive behavioral phenotypes.Molecular autism · 2019Article
- Control of CNS functions by RNA-binding proteins in neurological diseases.Current pharmacology reports · 2018Article
- The C-terminus of NMDAR GluN1-1a Subunit Translocates to Nucleus and Regulates Synaptic Function.Frontiers in cellular neuroscience · 2018Article
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23 authors at 1 institution in 1 country.
Funding
Abstract
Autism spectrum disorder (ASD) is a heritable, common neurodevelopmental disorder with diverse genetic causes. Several studies have implicated protein synthesis as one among several of its potential convergent mechanisms. We originally identified Janus kinase and microtubule-interacting protein 1 (JAKMIP1) as differentially expressed in patients with distinct syndromic forms of ASD, fragile X syndrome, and 15q duplication syndrome. Here, we provide multiple lines of evidence that JAKMIP1 is a component of polyribosomes and an RNP translational regulatory complex that includes fragile X mental retardation protein, DEAD box helicase 5, and the poly(A) binding protein cytoplasmic 1. JAKMIP1 loss dysregulates neuronal translation during synaptic development, affecting glutamatergic NMDAR signaling, and results in social deficits, stereotyped activity, abnormal postnatal vocalizations, and other autistic-like behaviors in the mouse. These findings define an important and novel role for JAKMIP1 in neural development and further highlight pathways regulating mRNA translation during synaptogenesis in the genesis of neurodevelopmental disorders.
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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.