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Analyses of the autism-associated neuroligin-3 R451C mutation in human neurons reveal a gain-of-function synaptic mechanism.
Wang L, Mirabella VR, Dai R, Su X, Xu R, Jadali A, Bernabucci M, Singh I, Chen Y, Tian J, Jiang P, Kwan KY, Pak C, Liu C, Comoletti D, Hart RP, Chen C, Südhof TC, Pang ZP. Wang L, et al. Among authors: sudhof tc. Mol Psychiatry. 2024 Jun;29(6):1620-1635. doi: 10.1038/s41380-022-01834-x. Epub 2022 Oct 24. Mol Psychiatry. 2024. PMID: 36280753 Free PMC article.
Neurexin-2 restricts synapse numbers and restrains the presynaptic release probability by an alternative splicing-dependent mechanism.
Lin PY, Chen LY, Zhou P, Lee SJ, Trotter JH, Südhof TC. Lin PY, et al. Among authors: sudhof tc. Proc Natl Acad Sci U S A. 2023 Mar 28;120(13):e2300363120. doi: 10.1073/pnas.2300363120. Epub 2023 Mar 24. Proc Natl Acad Sci U S A. 2023. Retraction in: Proc Natl Acad Sci U S A. 2024 Mar 12;121(11):e2403021121. doi: 10.1073/pnas.2403021121 PMID: 36961922 Free PMC article. Retracted.
663 results