Novel neurodevelopmental disorder model mice carrying point mutations in synapse organizer genes

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  • Yoshida Tomoyuki
    Department of Molecular Neuroscience, Graduate School of Medicine and Pharmaceutical Sciences, University of Toyama

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  • シナプスオーガナイザー遺伝子点変異導入マウスを用いた神経発達障害発症機構の解明
  • シナプスオーガナイザー イデンシテン ヘンイ ドウニュウ マウス オ モチイタ シンケイ ハッタツ ショウガイ ハッショウ キコウ ノ カイメイ

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Synapse organizers are a subset of cell adhesion molecules to induce pre-and postsynaptic differentiation and whose mutations are associated with neurodevelopmental disorders such as autism spectrum disorder, intellectual disability and schizophrenia. Accumulating evidence suggests that pre-and postsynaptic organizers form complexes in various combinations to regulate several different types of synapses depending on the respective synapse organizer complex in the brain. Thus, disease-associated mutations in the synapse organizer genes may have different effects on each respective synapse organizer complex. Recent structural analyses of the synapse organizer complexes enable to design point mutations that selectively interfere the formation of the respective synapse organizer complex. The mice carrying these designed synapse organizer mutations will be useful research tools to clarify the pathogenic mechanisms of neurodevelopmental disorders.

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