Aberrant microglial activation in mice lacking the dsRNA editing enzyme ADAR1 is rescued by removing the gene encoding PKR
Valentina Lacovich Strasil, Stanislav Stejskal, Kristina Locker Kovačovicova, Vaclav Pustka, Katerina Texlova, Pavla Musilova, Janka Melicherova, Daniel Havas, Liam P. Keegan, Mary A. O’Connell · FENS Forum 2024
Mutations in Adenosine deaminase acting on RNA (ADAR1) give rise to Aicardi-Goutières syndrome 6 (AGS6) a severe autoimmune disease characterized by inflammatory encephalopathy that presents within the first year of life. Some of the signs of AGS6 are microcephaly, calcifications in basal ganglia and other brain regions, abnormalities in the white matter tracts, excess lymphocytes in the cerebrospinal fluid (CSF) and increased interferon-alpha activation. Adar∆2-13 mutant mice lacking the Adar1 protein have aberrant high-level interferon expression and are embryonically lethal (E12.5). Adar∆2-
ePoster · Neuroscience