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Reduced social interaction and ultrasonic communication in a mouse model of monogenic heritable autism
Jamain, S.; Radyushkin, K.; Hammerschmidt, K. ; Granon, S.; Boretius, S. ; Varoqueaux, F. & Ramanantsoa, N. et al. (2008)
Proceedings of the National Academy of Sciences of the United States of America, 105(5) pp. 1710-1715. DOI: https://doi.org/10.1073/pnas.0711555105
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- Jamain, S.; Radyushkin, K.; Hammerschmidt, K. ; Granon, S.; Boretius, S. ; Varoqueaux, F.; Ramanantsoa, N.; Gallego, J.; Ronnenberg, A.; Winter, D.; Frahm, J. ; Fischer, J. ; Bourgeron, T.; Ehrenreich, H. ; Brose, N.
- Autism spectrum conditions (ASCs) are heritable conditions char-acterized by impaired reciprocal social interactions, deficits inlanguage acquisition, and repetitive and restricted behaviors andinterests. In addition to more complex genetic susceptibilities, evenmutation of a single gene can lead to ASC. Several such monogenicheritable ASC forms are caused by loss-of-function mutations ingenes encoding regulators of synapse function in neurons, includ-ingNLGN4. We report that mice with a loss-of-function mutationin the murineNLGN4orthologNlgn4, which encodes the synapticcell adhesion protein Neuroligin-4, exhibit highly selective deficitsin reciprocal social interactions and communication that are rem-iniscent of ASCs in humans. Our findings indicate that a proteinnetwork that regulates the maturation and function of synapses inthe brain is at the core of a major ASC susceptibility pathway, andestablish Neuroligin-4-deficient mice as genetic models for theexploration of the complex neurobiological disorders in ASCs.
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- Proceedings of the National Academy of Sciences of the United States of America