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sab4200614

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Combination of exome sequencing and immune testing confirms Aicardi-Goutieres syndrome type 5 in a challenging pediatric neurology case
Haskell G T, et al.
Cold Spring Harbor molecular case studies, 4(5), a002758-a002758 (2018)
SAMHD1 is the dendritic-and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx
Laguette N, et al.
Nature, 474(7353), 654-657 (2011)
Nadine Laguette et al.
Trends in immunology, 33(1), 26-33 (2011-12-20)
Recent studies have uncovered sterile alpha motif and HD domain 1 (SAMHD1) as the restriction factor that blocks HIV-1 replication in myeloid cells. In contrast to previously identified HIV-1 restriction factors, SAMHD1 does not meet a countermeasure developed by HIV-1.
Gillian I Rice et al.
Nature genetics, 41(7), 829-832 (2009-06-16)
Aicardi-Goutières syndrome is a mendelian mimic of congenital infection and also shows overlap with systemic lupus erythematosus at both a clinical and biochemical level. The recent identification of mutations in TREX1 and genes encoding the RNASEH2 complex and studies of
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
Rice G I, et al.
Nature Genetics, 41(7), 829-832 (2009)
Nadine Laguette et al.
Nature, 474(7353), 654-657 (2011-05-27)
The primate lentivirus auxiliary protein Vpx counteracts an unknown restriction factor that renders human dendritic and myeloid cells largely refractory to HIV-1 infection. Here we identify SAMHD1 as this restriction factor. SAMHD1 is a protein involved in Aicardi-Goutières syndrome, a
How SAMHD1 changes our view of viral restriction
Laguette N and Benkirane M.
Trends in Immunology, 33(1), 26-33 (2012)
Ester Ballana et al.
Antimicrobial agents and chemotherapy, 58(8), 4804-4813 (2014-06-11)
Sterile alpha motif and histidine-aspartic domain-containing protein 1 (SAMHD1) is a deoxynucleoside triphosphate (dNTP) triphosphohydrolase recently recognized as an antiviral factor that acts by depleting dNTP availability for viral reverse transcriptase (RT). SAMHD1 restriction is counteracted by the human immunodeficiency
M Chodorge et al.
Cell death and differentiation, 19(7), 1187-1195 (2012-01-21)
Receptor agonism remains poorly understood at the molecular and mechanistic level. In this study, we identified a fully human anti-Fas antibody that could efficiently trigger apoptosis and therefore function as a potent agonist. Protein engineering and crystallography were used to
Gloria T Haskell et al.
Cold Spring Harbor molecular case studies, 4(5) (2018-10-03)
Exome sequencing is increasingly being used to help diagnose pediatric neurology cases when clinical presentations are not specific. However, interpretation of equivocal results that include variants of uncertain significance remains a challenge. In those cases, follow-up testing and clinical correlation
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