ArticleNature communications2014
De novo TBR1 mutations in sporadic autism disrupt protein functions.
Article in Nature communications, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 65 papers, 1 of them a synthesis that pooled it.
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Who cites it
65 citing papers in PubMed, 1 synthesis or guideline pooled it, 120 citations in OpenAlex.
- Identification and Potential Clinical Utility of Common Genetic Variants in Gestational Diabetes among Chinese Pregnant Women.Diabetes & metabolism journal · 2025Pooled it
- Differential Neurodevelopmental Disruption by Bisphenol A (BPA) and Valproic Acid (VPA) in Human Forebrain Organoids.bioRxiv : the preprint server for biology · 2026Article
- Maternal Poly (I:C)-Induced Placental Inflammation and Endocrine Dysfunction Are Associated with Disrupted Corticogenesis in Mouse Offspring.Brain sciences · 2026Article
- Analyzing the genetic profile of autistic children and adolescents with minimal verbal abilities.Frontiers in genetics · 2026Article
- Abnormal development of gastrointestinal system of homozygous Foxp2(R552H)-mutated mice.Communications biology · 2025Article
- NovelGenes · 2025Article
- A subpopulation of cortical neurons altered by mutations in the autism risk gene DDX3X.Biology open · 2025Article
- GABA/Glutamate Neuron Differentiation Imbalance and Increased AKT/mTOR Signaling in CNTNAP2Biological psychiatry global open science · 2025Article
- FANS Unfixed: Isolation and Proteomic Analysis of Mouse Cell Type-Specific Brain Nuclei.Journal of proteome research · 2024Article
- Five autism-associated transcriptional regulators target shared loci proximal to brain-expressed genes.Cell reports · 2024Article
- Genetic architecture of childhood speech disorder: a review.Molecular psychiatry · 2024Review
- Vocal learning-associated convergent evolution in mammalian proteins and regulatory elements.Science (New York, N.Y.) · 2024Article
- Transcriptional regulation in the development and dysfunction of neocortical projection neurons.Neural regeneration research · 2024Review
- Neuroimaging genetics approaches to identify new biomarkers for the early diagnosis of autism spectrum disorder.Molecular psychiatry · 2023Review
- Characterization of the TBR1 interactome: variants associated with neurodevelopmental disorders disrupt novel protein interactions.Human molecular genetics · 2023Article
- NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.Molecular genetics and genomics : MGG · 2022Article
- Shared and Distinct Functional Effects of Patient-SpecificThe Journal of neuroscience : the official journal of the Society for Neuroscience · 2022Article
- Whole-exome sequencing identified five novel de novo variants in patients with unexplained intellectual disability.Journal of clinical laboratory analysis · 2022Article
- Tbr1 Misexpression Alters Neuronal Development in the Cerebral Cortex.Molecular neurobiology · 2022Article
- LiCl treatment leads to long-term restoration of spine maturation and synaptogenesis in adult Tbr1 mutants.Journal of neurodevelopmental disorders · 2022Article
5 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Next-generation sequencing recently revealed that recurrent disruptive mutations in a few genes may account for 1% of sporadic autism cases. Coupling these novel genetic data to empirical assays of protein function can illuminate crucial molecular networks. Here we demonstrate the power of the approach, performing the first functional analyses of TBR1 variants identified in sporadic autism. De novo truncating and missense mutations disrupt multiple aspects of TBR1 function, including subcellular localization, interactions with co-regulators and transcriptional repression. Missense mutations inherited from unaffected parents did not disturb function in our assays. We show that TBR1 homodimerizes, that it interacts with FOXP2, a transcription factor implicated in speech/language disorders, and that this interaction is disrupted by pathogenic mutations affecting either protein. These findings support the hypothesis that de novo mutations in sporadic autism have severe functional consequences. Moreover, they uncover neurogenetic mechanisms that bridge different neurodevelopmental disorders involving language deficits.
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