ArticleBrain : a journal of neurology2023
Cerebral organoids containing an AUTS2 missense variant model microcephaly.
Article in Brain : a journal of neurology, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers, 1 of them a synthesis that pooled it.
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Who cites it
38 citing papers in PubMed, 1 synthesis or guideline pooled it, 52 citations in OpenAlex.
- Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience.Advanced healthcare materials · 2026Pooled it
- SpaMOAL is a deep learning method that enables accurate spatial domain identification from multi-omics data.PLoS biology · 2026Article
- Brain organoids and genome editing: A new era in understanding human brain development and disorders.Neural regeneration research · 2026Article
- Advances and applications of brain organoids in central nervous system disorders: Bridging the gap from laboratory to clinic.Neural regeneration research · 2026Article
- Aberrant calcium signaling and neuronal activity in the L271H CACNA1D (Cav1.3) iPSC model of neurodevelopmental disease.Molecular psychiatry · 2026Article
- MeCP2 dysregulation inhibits mitophagy and impairs neural development in cortical organoids.Journal of advanced research · 2026Article
- Stem Cell Therapy and Models for Autism Spectrum Disorder: Insights and Research.Current neuropharmacology · 2026Review
- Pluripotent stem cells-based neural organoids for modelling human brain development and diseases.Cell & bioscience · 2025Review
- A phenotypic brain organoid atlas and biobank for neurodevelopmental disorders.Cell stem cell · 2025Article
- Postnatal Mouse Brain Region-Resolved Peptidomic Resource of Conditional Ndel1 Loss: Comparison of Acidic and Alcoholic Extraction Strategies.Journal of neurochemistry · 2025Article
- Loss of KDM5A-mediated H3K4me3 demethylation promotes aberrant neural development by Wnt/β-catenin pathway activation.Cell death & disease · 2025Article
- Organoids in Genetic Disorders: from Disease Modeling to Translational Applications.Stem cell reviews and reports · 2025Review
- Deciphering brain organoid heterogeneity by identifying key quality determinants.Communications biology · 2025Article
- Further Delineation of the AUTS2 HX Repeat Domain-Related Phenotype.American journal of medical genetics. Part A · 2025Article
- FBRSL1 regulates the expression of chromatin regulators BRPF1 and KAT6A.Human genetics · 2025Article
- Auts2 enhances neurogenesis and promotes expansion of the cerebral cortex.Journal of advanced research · 2025Article
- Parent-of-origin regulation by maternal auts2 shapes neurodevelopment and behavior in fish.Genome biology · 2025Article
- Modelling human brain development and disease with organoids.Nature reviews. Molecular cell biology · 2025Review
- Autophagy controls neuronal differentiation by regulating the WNT-DVL signaling pathway.Autophagy · 2025Article
- Cerebral organoid research for pediatric patients with neurological disorders.Clinical and experimental pediatrics · 2025Article
Corrections and comments
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Authors and funding
21 authors at 1 institution in 1 country.
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Abstract
Variants in the AUTS2 gene are associated with a broad spectrum of neurological conditions characterized by intellectual disability, microcephaly, and congenital brain malformations. Here, we use a human cerebral organoid model to investigate the pathophysiology of a heterozygous de novo missense AUTS2 variant identified in a patient with multiple neurological impairments including primary microcephaly and profound intellectual disability. Proband cerebral organoids exhibit reduced growth, deficits in neural progenitor cell (NPC) proliferation and disrupted NPC polarity within ventricular zone-like regions compared to control cerebral organoids. We used CRISPR-Cas9-mediated gene editing to correct this variant and demonstrate rescue of impaired organoid growth and NPC proliferative deficits. Single-cell RNA sequencing revealed a marked reduction of G1/S transition gene expression and alterations in WNT-β-catenin signalling within proband NPCs, uncovering a novel role for AUTS2 in NPCs during human cortical development. Collectively, these results underscore the value of cerebral organoids to investigate molecular mechanisms underlying AUTS2 syndrome.
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