Article
Disrupted degradative sorting of TLR7 is associated with human lupus.
Science immunology - 23 Feb 2024
Mishra Harshita, Schlack-Leigers Claire, Lim Ee Lyn, Thieck Oliver, Magg Thomas, Raedler Johannes, Wolf Christine, Klein Christoph, Ewers Helge, Lee-Kirsch Min Ae, Meierhofer David, Hauck Fabian, Majer Olivia
Abstract excerpt
Hyperactive TLR7 signaling has long been appreciated as driver of autoimmune disease in mouse models. Recently, gain-of-function mutations in TLR7 were identified as a monogenic cause of human lupus. TLR7 is an intracellular transmembrane receptor, sensing RNA breakdown products within late endosomes. Here, we show that endosome dysfunction leads to unrestricted TLR7 signaling and is associated with human lupus....
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