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Journal Article

SAMHD1 prevents autoimmunity by maintaining genome stability.

MPS-Authors

Staroske,  Wolfgang
Max Planck Society;

Guck,  Jochen
Max Planck Society;

Dahl,  Andreas
Max Planck Society;

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Shevchenko,  Anna
Max Planck Institute of Molecular Cell Biology and Genetics, Max Planck Society;

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Citation

Kretschmer, S., Wolf, C., König, N., Staroske, W., Guck, J., Häusler, M., et al. (2015). SAMHD1 prevents autoimmunity by maintaining genome stability. Annals of the Rheumatic Diseases, 74(3): e17.


Cite as: https://hdl.handle.net/21.11116/0000-0001-04AE-7
Abstract
The HIV restriction factor, SAMHD1 (SAM domain and HD domain-containing protein 1), is a triphosphohydrolase that degrades deoxyribonucleoside triphosphates (dNTPs). Mutations in SAMHD1 cause Aicardi-Goutières syndrome (AGS), an inflammatory disorder that shares phenotypic similarity with systemic lupus erythematosus, including activation of antiviral type 1 interferon (IFN). To further define the pathomechanisms underlying autoimmunity in AGS due to SAMHD1 mutations, we investigated the physiological properties of SAMHD1.