Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.

@article{Rebelo2006ModelingOT,
  title={Modeling of tumor necrosis factor receptor superfamily 1A mutants associated with tumor necrosis factor receptor-associated periodic syndrome indicates misfolding consistent with abnormal function.},
  author={Susana L Rebelo and Susan E Bainbridge and Mohammad R Amel-Kashipaz and Paul M Radford and Richard James Powell and Ian Todd and Patrick J Tighe},
  journal={Arthritis and rheumatism},
  year={2006},
  volume={54 8},
  pages={2674-87}
}
OBJECTIVE To investigate the effect of mutations in the tumor necrosis factor receptor superfamily 1A (TNFRSF1A) gene on the conformation and behavior of the TNFRSF1A protein. Mutations in TNFRSF1A cause the autosomal-dominant, autoinflammatory TNFR-associated periodic syndrome (TRAPS). METHODS The expression of recombinant TNFRSF1A was compared in SK-HEp-1 endothelial cells and HEK 293 epithelial cells stably transfected with full-length R347A or Deltasig constructs of wild-type or TRAPS… CONTINUE READING

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