LMNA
関連文献

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正常細胞でのラミンAの生合成と、ハッチンソン・ギルフォード・プロジェリア症候群の患者でみられる成熟ラミンAの形成不全。
野生型（左）と変異型（右）のラミンAのIgフォールド。PDB: 1IFR​。通常アルギニン527番残基（青）はグルタミン酸537番残基（マゼンタ）と塩橋を形成しているが、R527L置換によってこの相互作用は破壊される（ロイシンは短すぎでグルタミン酸まで到達できない）。表面モデル（上）とリボン図（下）表示。