Pathogenic gain-of-function mutations in the prodomain and c-terminal domain of pcsk9 inhibit ldl binding

HIGHLIGHTS

• who: LDLR et al. from the University Alberta, Canada have published the paper: Pathogenic gain-of-function mutations in the prodomain and C-terminal domain of PCSK9 inhibit LDL binding, in the Journal: (JOURNAL)
• what: The authors demonstrate that numerous PCSK9 GOF mutations prevent or severely inhibit LDL binding in_vitro. The authors report that a single point mutation in PCSK9 (S127R) prevented LDL from inhibiting PCSK9-mediated LDLR binding and degradation in cultured cells . The authors provide evidence that PCSK9-S127R is severely defective in its ability to bind apoB100 in LDL particles , suggesting that . . .
  

   

  

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