一个de novo主导-负的PSMB8突变导致严重的CANDLE/PRAAS由于被阻止的蛋白质酶生物发生

Sophie Wolfgramm1, Sara Alehashemi2, Martin Wendlandt1

  • 1Institute of Medical Biochemistry and Molecular Biology, University Medicine Greifswald, Greifswald, Germany.

PubMed
概括

一种新的蛋白酶相关自身炎症综合征 (PRAAS) 变体导致全身炎症和肝脏疾病. 阻断特定的应激反应激酶可以通过向蛋白激酶R (PKR) 和一般控制不可抑制的2 (GCN2) 来治疗这种干扰症.

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