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
Aicardi-Goutières Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.
Oleksy B et al.
Molecular Syndromology, 2022
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
Single-stranded nucleic acids promote SAMHD1 complex formation.
Tüngler V et al.
Journal of Molecular Medicine (berlin, Germany), 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
Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutières syndrome.
Ramantani G et al.
Arthritis and Rheumatism, 2010
Select a paper to view details