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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9372315 | PMC |
| http://dx.doi.org/10.1016/j.ymthe.2022.06.020 | DOI Listing |
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Base-edited cynomolgus monkeys mimic core symptoms of STXBP1 encephalopathy.
Mol Ther
June 2022
Institute of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, CAS Key Laboratory of Primate Neurobiology, State Key Laboratory of Neuroscience, Chinese Academy of Sciences, Shanghai, China; Shanghai Center for Brain Science and Brain-Inspired Intelligence Technology, Shanghai 201210, China. Electronic address:
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.
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