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C1 inhibitor hinge region mutations produce dysfunction by different mechanisms | Semantic Scholar

@article{Davis1992C1IH,
  title={C1 inhibitor hinge region mutations produce dysfunction by different mechanisms},
  author={Alvin E. Davis and Kulwant Singh Aulak and Richard B. Parad and Hilary P. Stecklein and Eric Eldering and C. Erik Hack and Judith Kramer and Robert C. Strunk and John J. Bissler and Fred S. Rosen},
  journal={Nature Genetics},
  year={1992},
  volume={1},
  pages={354-358},
  url={https://api.semanticscholar.org/CorpusID:29076504}
}

A “hinge” region mutation in C1 inhibitor with a Val to Glu replacement is identified at P14 Val–432, resulting in dysfunction by different mechanisms: in one (P14 Val→Glu), the inhibitor is converted to a substrate, while in the other (P10 Ala→Thr), interaction with target protease is blocked.

66 Citations

Characterization of C1 Inhibitor-Ta

The data suggest that the mutation in C1INH-Ta results in a folding abnormality that behaves as if it consists of two populations of molecules, one of which is susceptible to multimerization and one ofWhich is converted to a substrate, but which retains residual inhibitory activity.

40 References