ArticleCell research2016
TALEN-based generation of a cynomolgus monkey disease model for human microcephaly.
Article in Cell research, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 51 citations in OpenAlex.
- Modeling Tau-Mediated Pathology in Monkey Brain Slices.Biology · 2026Article
- Genetically Modified Primate Models for Brain Disorder Research.Neuroscience bulletin · 2026Review
- Gene therapy for CNS disorders: modalities, delivery and translational challenges.Nature reviews. Neuroscience · 2024Review
- Effects of DNA methylation and its application in inflammatory bowel disease (Review).International journal of molecular medicine · 2024Review
- Microcephaly GeneInternational journal of molecular sciences · 2024Article
- Comparative analysis of superovulated versus uterine-embryo synchronized recipients for embryo transfer in cynomolgus monkeys (Frontiers in veterinary science · 2024Article
- Neurogenesis in primates versus rodents and the value of non-human primate models.National science review · 2023Review
- CATI: an efficient gene integration method for rodent and primate embryos by MMEJ suppression.Genome biology · 2023Article
- New advances in CRISPR/Cas-mediated precise gene-editing techniques.Disease models & mechanisms · 2023Review
- BMAL1 moonlighting as a gatekeeper for LINE1 repression and cellular senescence in primates.Nucleic acids research · 2022Article
- Modeling genetic diseases in nonhuman primates through embryonic and germline modification: Considerations and challenges.Science translational medicine · 2022Review
- Review
- Gene editing monkeys: Retrospect and outlook.Frontiers in cell and developmental biology · 2022Review
- Autologous transplantation of thecal stem cells restores ovarian function in nonhuman primates.Cell discovery · 2021Article
- Roots of the Malformations of Cortical Development in the Cell Biology of Neural Progenitor Cells.Frontiers in neuroscience · 2021Review
- Embryo-Engineered Nonhuman Primate Models: Progress and Gap to Translational Medicine.Research (Washington, D.C.) · 2021Review
- The dawn of non-human primate models for neurodevelopmental disorders.Current opinion in genetics & development · 2020Review
- Regulation of IL12B Expression in Human Macrophages by TALEN-mediated Epigenome Editing.Current medical science · 2020Article
- Opportunities and limitations of genetically modified nonhuman primate models for neuroscience research.Proceedings of the National Academy of Sciences of the United States of America · 2020Review
- CRISPR-based functional genomics for neurological disease.Nature reviews. Neurology · 2020Review
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Authors and funding
26 authors at 9 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Gene editing in non-human primates may lead to valuable models for exploring the etiologies and therapeutic strategies of genetically based neurological disorders in humans. However, a monkey model of neurological disorders that closely mimics pathological and behavioral deficits in humans has not yet been successfully generated. Microcephalin 1 (MCPH1) is implicated in the evolution of the human brain, and MCPH1 mutation causes microcephaly accompanied by mental retardation. Here we generated a cynomolgus monkey (Macaca fascicularis) carrying biallelic MCPH1 mutations using transcription activator-like effector nucleases. The monkey recapitulated most of the important clinical features observed in patients, including marked reductions in head circumference, premature chromosome condensation (PCC), hypoplasia of the corpus callosum and upper limb spasticity. Moreover, overexpression of MCPH1 in mutated dermal fibroblasts rescued the PCC syndrome. This monkey model may help us elucidate the role of MCPH1 in the pathogenesis of human microcephaly and better understand the function of this protein in the evolution of primate brain size.
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