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文献詳細
特集 遺伝性脊髄小脳失調症の病態と治療展望
文献概要
マイクロサテライト・リピート伸長を原因とする常染色体優性遺伝性脊髄小脳変性症のうち，非翻訳リピート伸長病においては，RNA gain-of-functionに加えてRAN translationと呼ばれる新たな分子機構が明らかにされているが，これまで蛋白レベルの病態が主と考えられてきたポリグルタミン病においてもRNAレベルの病態やRAN translationの関与が明らかにされており，翻訳領域・非翻訳領域いずれのリピート伸長病においても共通する分子機構の存在が示唆されている。
参考文献
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