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Updated: May 20, 2026

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プロフィリン1遺伝子の変異は,家族性アミオトロフィック横筋硬化症を引き起こす

Chi-Hong Wu1, Claudia Fallini, Nicola Ticozzi

  • 1Department of Neurology, University of Massachusetts Medical School, Worcester, Massachusetts 01605, USA.

Nature
|July 18, 2012
PubMed
まとめ

プロフィリン1 (PFN1) 遺伝子の変異は,家族性アミオトロフィック横筋硬化症 (FALS) の原因として特定されています. PFN1変異はアクチンダイナミクスを破壊し,FALSのモーターニューロン変性に寄与します.

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