ArticleMolecular therapy : the journal of the American Society of Gene Therapy2022
Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy.
Article in Molecular therapy : the journal of the American Society of Gene Therapy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 17 citations in OpenAlex.
- Genetically Modified Primate Models for Brain Disorder Research.Neuroscience bulletin · 2026Review
- Diverse species of animal models in epilepsy research: Progress and perspectives.Zoological research · 2025Review
- STXBP1 Syndrome: Biotechnological Advances, Challenges, and Perspectives in Gene Therapy, Experimental Models, and Translational Research.Biotech (Basel (Switzerland)) · 2025Review
- Advances and applications of genome-edited animal models for severe combined immunodeficiency.Zoological research · 2025Review
- Early blood immune molecular alterations in cynomolgus monkeys with a PSEN1 mutation causing familial Alzheimer's disease.Alzheimer's & dementia : the journal of the Alzheimer's Association · 2024Article
- Comparative transcriptome analysis between rhesus macaques (Zoological research · 2024Article
- Review
- Advances in CRISPR/Cas gene therapy for inborn errors of immunity.Frontiers in immunology · 2023Review
- Base editing the synapse: Modeling a complex neurological disorder in non-human primates.Molecular therapy : the journal of the American Society of Gene Therapy · 2022Article
- STXBP1: fast-forward to a brighter future - a patient organization perspective.Therapeutic advances in rare diseaseReview
Corrections and comments
- Commented on by
- Erratum issued
Authors and funding
17 authors at 5 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Presynaptic syntaxin binding protein 1 (STXBP1) is essential for neurotransmitter release. Heterozygous mutations in this protein cause STXBP1 encephalopathy (STXBP1-E), which is characterized by intellectual disabilities and epilepsies. Since nonhuman primates closely resemble humans, monkey models may advance studies on the pathogenesis and therapeutic treatments of STXBP1-E. We generated cynomolgus monkeys carrying STXBP1 (R292H) mutation through base editing of in vitro fertilized embryos to mimic a clinical condition. The newborn STXBP1-edited monkeys exhibited focal epilepsy, and the animal that survived beyond the first week postpartum presented typical EEG phenotypes. Biochemical analysis of brain biopsy samples showed reduced levels of STXBP1 (MUNC18-1) and SNARE complex proteins. Single-cell sequencing identified one specific cell cluster that may contribute to encephalopathy. Thus, our case report shows that base-edited STXBP1 mutant monkeys are a good animal model for STXBP1-E, and that a base-editing approach is useful for generating primate models of human genetic disorders.
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