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病原性SYNGAP1変異は,状脊髄シナプスの成熟を妨害することによって,認知発達を損なう

James P Clement1, Massimiliano Aceti1, Thomas K Creson1

  • 1Department of Neuroscience, The Scripps Research Institute, Jupiter, FL 33458, USA.

Cell
|November 13, 2012
PubMed
まとめ

SynGAPタンパク質は,神経刺激性を調節することにより,正常な知的発達に不可欠です. SYNGAP1変異によるシナプスの早期成熟は,知的障害や自閉症スペクトル障害を引き起こすため,早期発達を強調しています.

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