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识别聚素2错误感应突变物,这些突变物是针对内质网关联降解的目标

Christopher J Guerriero1, Marcelo D Carattino2, Katherine G Sharp1

  • 1Department of Biological Sciences, University of Pittsburgh, Pittsburgh, Pennsylvania, United States.

American journal of physiology. Cell physiology
|December 23, 2024
PubMed
概括

自体主导多囊性病 (ADPKD) 是由PKD2基因的突变引起的. 这项研究表明,一些PKD2突变导致蛋白质错误折叠和降解,为ADPKD提供潜在的治疗点.

关键词:
自体主导多囊性病 (ADPKD) 是一种自体主导多囊性病.细胞内膜网关联退化 (ERAD)聚素2 (PC2) 是一种多素.

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