This information is current as Release IFN-Stimulated Gene Response and Cytokine Syndrome Explained by Cell-Specific Goutières − Phenotypic Variation in Aicardi Vescovi

@inproceedings{Hol2015ThisII,
  title={This information is current as Release IFN-Stimulated Gene Response and Cytokine Syndrome Explained by Cell-Specific Gouti{\`e}res − Phenotypic Variation in Aicardi Vescovi},
  author={Elly M Hol and Geerts and P. O. Couraud and Lidia de Filippis and Licameli Angelo and Bodegraven and M. H. Jansen and Jacqueline A. Sluijs and Dirk and Eloy Cuadrado and Iliana Michailidou},
  year={2015}
}
Aicardi–Goutières syndrome (AGS) is a monogenic inflammatory encephalopathy caused by mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, or MDA5. Mutations in those genes affect normal RNA/DNA intracellular metabolism and detection, triggering an autoimmune response with an increase in cerebral IFN-a production by astrocytes. Micro-angiopathy and vascular disease also contribute to the neuropathology in AGS. In this study, we report that AGS gene silencing of TREX1, SAMHD1… CONTINUE READING

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References

Publications referenced by this paper.
SHOWING 1-10 OF 51 REFERENCES

Clinical and molecular phenotype of Aicardi-Goutieres syndrome.

  • American journal of human genetics
  • 2007
VIEW 5 EXCERPTS
HIGHLY INFLUENTIAL

Interferon and Aicardi-Goutières syndrome.

  • European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
  • 2002
VIEW 9 EXCERPTS
HIGHLY INFLUENTIAL