Associated Papers
Aicardi-Goutières Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond.
Li Y et al.
Clinical Immunology (orlando, Fla.), 2026
The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.
Hofer MJ et al.
Immunological Reviews, 2024
SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA.
Maharana S et al.
Molecular Cell, 2022
SAMHD1 in cancer: curse or cure?
Schott K et al.
Journal of Molecular Medicine (berlin, Germany), 2022
34480199 (PubMed )
Supplement: 109_2021_2131_MOESM1_ESM.xlsx › Tabelle1
Novel Mutations in ACP5 and SAMHD1 in a Patient With Pediatric Systemic Lupus Erythematosus.
Hong SM et al.
Frontiers in Pediatrics, 2022
Efficient Generation and Correction of Mutations in Human iPS Cells Utilizing mRNAs of CRISPR Base Editors and Prime Editors.
Sürün D et al.
Genes, 2020
A SAMHD1 mutation associated with Aicardi-Goutières syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.
White TE et al.
Human Mutation, 2017
SAMHD1 prevents autoimmunity by maintaining genome stability.
Kretschmer S et al.
Annals of the Rheumatic Diseases, 2015
Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response.
Behrendt R et al.
Cell Reports, 2013
Single-stranded nucleic acids promote SAMHD1 complex formation.
Tüngler V et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Trex1 regulates lysosomal biogenesis and interferon-independent activation of antiviral genes.
Hasan M et al.
Nature Immunology, 2013
SAMHD1 is a nucleic-acid binding protein that is mislocalized due to aicardi-goutières syndrome-associated mutations.
Goncalves A et al.
Human Mutation, 2012
Aicardi-Goutières syndrome and systemic lupus erythematosus (SLE) in a 12-year-old boy with SAMHD1 mutations.
Ramantani G et al.
Journal of Child Neurology, 2011
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G et al.
Arthritis and Rheumatism, 2010
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