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参与原性糖尿病不良症的水素-2突变体的结构和功能分析

Carl Johan Hagströmer1, Jonas Hyld Steffen2, Stefan Kreida1

  • 1Department of Biochemistry and Structural Biology, Lund University, Lund, Sweden.

Scientific reports
|September 6, 2023
PubMed
概括

在水素-2 (AQP2) 水道中的突变可以导致原性糖尿病无味症 (NDI). 这项研究揭示了特定的AQP2突变如何破坏蛋白质的稳定,导致错误折叠和NDI.

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