ArticleNature genetics2017
Disruption of the ATXN1-CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 88 papers.
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Who cites it
88 citing papers in PubMed.
- Functional divergence of Capicua isoforms explains differential tissue vulnerability in neurological disease.Genes & development · 2026Article
- Obeticholic acid alleviates lupus pathology by inhibiting T follicular helper cell differentiation.EMBO molecular medicine · 2026Article
- Sequestration of growth cone surface proteins by cytoplasmic Lrrtm2 inducesbioRxiv : the preprint server for biology · 2026Article
- Evaluating the Genetic Overlap Between Congenital Heart Disease and Neuroblastoma Risk.Pediatric blood & cancer · 2026Article
- Environmental context modulates sociability in ube3a zebrafish mutants via alterations in sensory pathways.Molecular psychiatry · 2026Article
- Severity-stratified genetic diagnosis by trio exome sequencing in isolated fetal growth restriction.Frontiers in genetics · 2026Article
- Capicua regulates the survival of Cajal-Retzius cells in the postnatal hippocampus.Cell death & disease · 2025Article
- Molecular basis of DNA recognition by the HMG-box-C1 module of capicua.Structure (London, England : 1993) · 2025Article
- Functional divergence of Capicua isoforms explains differential tissue vulnerability in neurological disease.bioRxiv : the preprint server for biology · 2025Article
- Multi-omics reveals cross-tissue regulatory mechanisms of autism risk loci via gut microbiota-immunity-brain axis.AMB Express · 2025Article
- Capicua Refines Mossy Fiber-CA3 Axon Targeting in the Late Postnatal Hippocampus.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2025Article
- Transcriptional repressor Capicua is a gatekeeper of cell-intrinsic interferon responses.Cell host & microbe · 2025Article
- The chromatin remodeler ADNP regulates neurodevelopmental disorder risk genes and neocortical neurogenesis.Proceedings of the National Academy of Sciences of the United States of America · 2025Article
- The capicua-ataxin-1-like complex regulates Notch-driven marginal zone B cell development and sepsis progression.Nature communications · 2024Article
- Exploring genetic testing requests, genetic alterations and clinical associations in a cohort of children with autism spectrum disorder.European child & adolescent psychiatry · 2024Article
- Review
- O-GlcNAc transferase congenital disorder of glycosylation (OGT-CDG): Potential mechanistic targets revealed by evaluating the OGT interactome.The Journal of biological chemistry · 2024Review
- Biological and therapeutic insights from animal modeling of fusion-driven pediatric soft tissue sarcomas.Disease models & mechanisms · 2024Review
- Learning and Memory Impairments With Attention-Deficit/Hyperactivity Disorder.Physiological research · 2024Review
- Molecular Determinants of Neurocognitive Deficits in Glioma: Based on 2021 WHO Classification.Journal of molecular neuroscience : MN · 2024Article
28 more citing papers are in PubMed but not listed here.
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Authors and funding
37 authors.
Funding
Abstract
Gain-of-function mutations in some genes underlie neurodegenerative conditions, whereas loss-of-function mutations in the same genes have distinct phenotypes. This appears to be the case with the protein ataxin 1 (ATXN1), which forms a transcriptional repressor complex with capicua (CIC). Gain of function of the complex leads to neurodegeneration, but ATXN1-CIC is also essential for survival. We set out to understand the functions of the ATXN1-CIC complex in the developing forebrain and found that losing this complex results in hyperactivity, impaired learning and memory, and abnormal maturation and maintenance of upper-layer cortical neurons. We also found that CIC activity in the hypothalamus and medial amygdala modulates social interactions. Informed by these neurobehavioral features in mouse mutants, we identified five individuals with de novo heterozygous truncating mutations in CIC who share similar clinical features, including intellectual disability, attention deficit/hyperactivity disorder (ADHD), and autism spectrum disorder. Our study demonstrates that loss of ATXN1-CIC complexes causes a spectrum of neurobehavioral phenotypes.
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