The TREX1 exonuclease R114H mutation in Aicardi-Goutières syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.

@article{Orebaugh2011TheTE,
  title={The TREX1 exonuclease R114H mutation in Aicardi-Gouti{\`e}res syndrome and lupus reveals dimeric structure requirements for DNA degradation activity.},
  author={Clinton D. Orebaugh and Jason M. Fye and Scott B Harvey and Thomas Hollis and F. W. Perrino},
  journal={The Journal of biological chemistry},
  year={2011},
  volume={286 46},
  pages={
          40246-54
        }
}
Mutations in the TREX1 gene cause Aicardi-Goutières syndrome (AGS) and are linked to the autoimmune disease systemic lupus erythematosus. The TREX1 protein is a dimeric 3' DNA exonuclease that degrades DNA to prevent inappropriate immune activation. One of the most common TREX1 mutations, R114H, causes AGS as a homozygous and compound heterozygous mutation and is found as a heterozygous mutation in systemic lupus erythematosus. The TREX1 proteins containing R114H and the insertion mutations… CONTINUE READING
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16357–16363 TREX1 R114H Mutation in AGS and Lupus 40254 JOURNAL OF BIOLOGICAL CHEMISTRY VOLUME

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