ArticleAutism research : official journal of the International Society for Autism Research2019
Gastrointestinal dysfunction in patients and mice expressing the autism-associated R451C mutation in neuroligin-3.
Article in Autism research : official journal of the International Society for Autism Research, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 53 papers, 2 of them syntheses that pooled it.
What it found
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Who cites it
53 citing papers in PubMed, 2 syntheses or guidelines pooled it, 81 citations in OpenAlex.
- Comparing the Gut Microbiome in Autism and Preclinical Models: A Systematic Review.Frontiers in cellular and infection microbiology · 2022Pooled it
- UTMOST, a single and cross-tissue TWAS (Transcriptome Wide Association Study), reveals new ASD (Autism Spectrum Disorder) associated genes.Translational psychiatry · 2021Pooled it
- Research Progress on Bidirectional Regulation of the Microbiota-Gut-Brain Axis in Autism Spectrum Disorder Based on the Immune-Metabolic-Endocrine Interactive Network.Biomolecules · 2026Review
- Gut microbiome alterations are sex-dependently associated with brain abnormalities in a mouse model of Neurofibromatosis type I.Molecular psychiatry · 2026Article
- Interaction of the Gut Microbiota and the Enteric Nervous System: Implications in Gastrointestinal Disorders Associated With Autism Spectrum Disorder.Autism research : official journal of the International Society for Autism Research · 2026Review
- Dup15q model mice exhibit impaired gastrointestinal motility and a constipation-like phenotype, alleviated by prucalopride.Translational psychiatry · 2026Article
- Towards treatments targeting the gut to improve behavioural outcomes in autism spectrum disorder.Journal of neural transmission (Vienna, Austria : 1996) · 2026Review
- Digestive Neurobiology in Autism: From Enteric and Central Nervous System Interactions to Shared Genetic Pathways.International journal of molecular sciences · 2025Review
- Training Schedule Affects Operant Responding Independent of Motivation in the Neuroligin-3 R451C Mouse Model of Autism.Genes, brain, and behavior · 2025Article
- Review
- The endocannabinoidome-gut microbiome-brain axis as a novel therapeutic target for autism spectrum disorder.Journal of biomedical science · 2025Review
- Contribution of neuroligin and neurexin alternative splicing to the establishment of enteric neuronal synaptic specificity.American journal of physiology. Gastrointestinal and liver physiology · 2025Article
- Modulating autism spectrum disorder pathophysiology using a trace amine-focused approach: targeting the gut.Molecular medicine (Cambridge, Mass.) · 2025Review
- Mice expressing the autism-associated neuroligin-3 R451C variant exhibit increased mucus density and altered distributions of intestinal microbiota.The ISME journal · 2025Article
- Article
- The regulation of enteric neuron connectivity by semaphorin 5A is affected by the autism-associated S956G missense mutation.iScience · 2024Article
- Autism spectrum disorders and the gastrointestinal tract: insights into mechanisms and clinical relevance.Nature reviews. Gastroenterology & hepatology · 2024Review
- Faster Gastrointestinal Transit, Reduced Small Intestinal Smooth Muscle Tone and Dysmotility in theInternational journal of molecular sciences · 2024Article
- Comparing Gastrointestinal Endoscopy Findings in Children with Autism, Developmental Delay, or Typical Development.The Journal of pediatrics · 2024Article
- Age-associated changes in lineage composition of the enteric nervous system regulate gut health and disease.eLife · 2023Article
Corrections and comments
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Authors and funding
19 authors at 9 institutions in 5 countries.
Funding
Abstract
Gastrointestinal (GI) problems constitute an important comorbidity in many patients with autism. Multiple mutations in the neuroligin family of synaptic adhesion molecules are implicated in autism, however whether they are expressed and impact GI function via changes in the enteric nervous system is unknown. We report the GI symptoms of two brothers with autism and an R451C mutation in Nlgn3 encoding the synaptic adhesion protein, neuroligin-3. We confirm the presence of an array of synaptic genes in the murine GI tract and investigate the impact of impaired synaptic protein expression in mice carrying the human neuroligin-3 R451C missense mutation (NL3
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Registered trials
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.